Linked Data
ClinVar Variation Id:
220329
dbSNP Id:
rs777760565
ExAC:
5:112128212 G / C
gnomAD v2:
5-112128212-G-C
gnomAD v3:
5-112792515-G-C
gnomAD v4:
5-112792515-G-C
ERepo:
CA047113/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112792515G>C , CM000667.2:g.112792515G>C | GRCh38 |
| NC_000005.9:g.112128212G>C , CM000667.1:g.112128212G>C | GRCh37 |
| NC_000005.8:g.112156111G>C | NCBI36 |
| NG_008481.4:g.104995G>C , LRG_130:g.104995G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.715G>C | ENSP00000484935.2:p.Ala239Pro | |
| ENST00000504915.3:c.715G>C | ENSP00000473355.2:p.Ala239Pro | |
| ENST00000505084.2:n.771G>C | ||
| ENST00000505350.2:c.*721G>C | ENSP00000481752.1:n.*721G>C | |
| ENST00000507379.6:c.676-8764G>C | ENSP00000423224.2:n.676-8764G>C | |
| ENST00000509732.6:c.715G>C | ENSP00000426541.2:p.Ala239Pro | |
| ENST00000512211.7:c.715G>C | ENSP00000423828.3:p.Ala239Pro | |
| ENST00000257430.9:c.715G>C MANE Select | ENSP00000257430.4:p.Ala239Pro | |
| ENST00000257430.8:c.715G>C | ENSP00000257430.4:p.Ala239Pro | |
| ENST00000507379.5:c.676-8764G>C | ENSP00000423224.1:n.676-8764G>C | |
| ENST00000508376.6:c.715G>C | ENSP00000427089.2:p.Ala239Pro | |
| ENST00000508624.5:c.715G>C | ENSP00000424265.1:p.Ala239Pro | |
| ENST00000512211.6:c.715G>C | ENSP00000423828.2:p.Ala239Pro | |
| NM_000038.5:c.715G>C | NP_000029.2:p.Ala239Pro | |
| NM_001127510.2:c.715G>C | NP_001120982.1:p.Ala239Pro | |
| NM_001127511.2:c.676-8764G>C | NP_001120983.2:n.676-8764G>C | |
| NM_001354895.1:c.715G>C | NP_001341824.1:p.Ala239Pro | |
| NM_001354896.1:c.715G>C | NP_001341825.1:p.Ala239Pro | |
| NM_001354897.1:c.745G>C | NP_001341826.1:p.Ala249Pro | |
| NM_001354898.1:c.640G>C | NP_001341827.1:p.Ala214Pro | |
| NM_001354899.1:c.646-8764G>C | NP_001341828.1:n.646-8764G>C | |
| NM_001354900.1:c.538G>C | NP_001341829.1:p.Ala180Pro | |
| NM_001354901.1:c.538G>C | NP_001341830.1:p.Ala180Pro | |
| NM_001354902.1:c.745G>C | NP_001341831.1:p.Ala249Pro | |
| NM_001354903.1:c.715G>C | NP_001341832.1:p.Ala239Pro | |
| NM_001354904.1:c.640G>C | NP_001341833.1:p.Ala214Pro | |
| NM_001354905.1:c.538G>C | NP_001341834.1:p.Ala180Pro | |
| NM_001354906.1:c.-321G>C | NP_001341835.1:n.-321G>C | |
| NM_000038.6:c.715G>C MANE Select | NP_000029.2:p.Ala239Pro | |
| NM_001127510.3:c.715G>C | NP_001120982.1:p.Ala239Pro | |
| NM_001127511.3:c.676-8764G>C | NP_001120983.2:n.676-8764G>C | |
| NM_001354895.2:c.715G>C | NP_001341824.1:p.Ala239Pro | |
| NM_001354896.2:c.715G>C | NP_001341825.1:p.Ala239Pro | |
| NM_001354897.2:c.745G>C | NP_001341826.1:p.Ala249Pro | |
| NM_001354898.2:c.640G>C | NP_001341827.1:p.Ala214Pro | |
| NM_001354899.2:c.646-8764G>C | NP_001341828.1:n.646-8764G>C | |
| NM_001354900.2:c.538G>C | NP_001341829.1:p.Ala180Pro | |
| NM_001354901.2:c.538G>C | NP_001341830.1:p.Ala180Pro | |
| NM_001354902.2:c.745G>C | NP_001341831.1:p.Ala249Pro | |
| NM_001354903.2:c.715G>C | NP_001341832.1:p.Ala239Pro | |
| NM_001354904.2:c.640G>C | NP_001341833.1:p.Ala214Pro | |
| NM_001354905.2:c.538G>C | NP_001341834.1:p.Ala180Pro | |
| NM_001354906.2:c.-321G>C | NP_001341835.1:n.-321G>C |