Linked Data
ClinVar Variation Id:
439227
dbSNP Id:
rs149538764
ExAC:
12:103260459 C / T
gnomAD v2:
12-103260459-C-T
gnomAD v3:
12-102866681-C-T
gnomAD v4:
12-102866681-C-T
ERepo:
CA6748923/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866681C>T , CM000674.2:g.102866681C>T | GRCh38 |
| NC_000012.11:g.103260459C>T , CM000674.1:g.103260459C>T | GRCh37 |
| NC_000012.10:g.101784589C>T | NCBI36 |
| NG_008690.1:g.55922G>A | |
| NG_008690.2:g.96730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.442-18G>A MANE Select | ENSP00000448059.1:n.442-18G>A | |
| ENST00000307000.7:c.427-18G>A | ENSP00000303500.2:n.427-18G>A | |
| ENST00000549111.5:n.538-18G>A | ||
| ENST00000551988.5:n.530+10781G>A | ||
| ENST00000553106.5:c.442-18G>A | ENSP00000448059.1:n.442-18G>A | |
| NM_000277.1:c.442-18G>A | NP_000268.1:n.442-18G>A | |
| XM_011538422.1:c.442-18G>A | XP_011536724.1:n.442-18G>A | |
| NM_000277.2:c.442-18G>A | NP_000268.1:n.442-18G>A | |
| NM_001354304.1:c.442-18G>A | NP_001341233.1:n.442-18G>A | |
| XM_017019370.2:c.442-18G>A | XP_016874859.1:n.442-18G>A | |
| NM_000277.3:c.442-18G>A MANE Select | NP_000268.1:n.442-18G>A | |
| NM_001354304.2:c.442-18G>A | NP_001341233.1:n.442-18G>A |