Linked Data
ClinVar Variation Id:
102525
dbSNP Id:
rs62508574
gnomAD v4:
12-102843745-A-G
ERepo:
CA229344/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843745A>G , CM000674.2:g.102843745A>G | GRCh38 |
| NC_000012.11:g.103237523A>G , CM000674.1:g.103237523A>G | GRCh37 |
| NC_000012.10:g.101761653A>G | NCBI36 |
| NG_008690.1:g.78858T>C | |
| NG_008690.2:g.119666T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1100T>C MANE Select | ENSP00000448059.1:p.Leu367Pro | |
| ENST00000307000.7:c.1085T>C | ENSP00000303500.2:p.Leu362Pro | |
| ENST00000549247.6:n.859T>C | ||
| ENST00000551114.2:n.762T>C | ||
| ENST00000553106.5:c.1100T>C | ENSP00000448059.1:p.Leu367Pro | |
| ENST00000635477.1:c.204T>C | ||
| ENST00000635528.1:n.615T>C | ||
| NM_000277.1:c.1100T>C | NP_000268.1:p.Leu367Pro | |
| XM_011538422.1:c.1043T>C | XP_011536724.1:p.Leu348Pro | |
| NM_000277.2:c.1100T>C | NP_000268.1:p.Leu367Pro | |
| NM_001354304.1:c.1100T>C | NP_001341233.1:p.Leu367Pro | |
| NM_000277.3:c.1100T>C MANE Select | NP_000268.1:p.Leu367Pro | |
| NM_001354304.2:c.1100T>C | NP_001341233.1:p.Leu367Pro |