Linked Data
ClinVar Variation Id:
219004
dbSNP Id:
rs199971687
ExAC:
12:110002982 C / T
gnomAD v2:
12-110002982-C-T
gnomAD v3:
12-109565177-C-T
gnomAD v4:
12-109565177-C-T
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109565177C>T , CM000674.2:g.109565177C>T | GRCh38 |
| NC_000012.11:g.110002982C>T , CM000674.1:g.110002982C>T | GRCh37 |
| NC_000012.10:g.108487365C>T | NCBI36 |
| NG_007096.1:g.13321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.291-1G>A MANE Select | ENSP00000445920.1:n.291-1G>A | |
| ENST00000420167.6:c.*120-1G>A | ENSP00000416136.2:n.*120-1G>A | |
| ENST00000503497.7:c.*1-1G>A | ENSP00000474881.1:n.*1-1G>A | |
| ENST00000536760.1:n.294-1G>A | ||
| ENST00000537496.5:c.291-1G>A | ENSP00000444793.1:n.291-1G>A | |
| ENST00000540016.5:c.135-1G>A | ENSP00000474582.1:n.135-1G>A | |
| ENST00000541763.6:c.291-1G>A | ENSP00000474981.1:n.291-1G>A | |
| ENST00000542390.5:n.318-1G>A | ||
| ENST00000544051.5:c.*85-1G>A | ENSP00000438079.1:n.*85-1G>A | |
| ENST00000545712.6:c.291-1G>A | ENSP00000445920.1:n.291-1G>A | |
| NM_052845.3:c.291-1G>A | NP_443077.1:n.291-1G>A | |
| NR_038118.1:n.364-1G>A | ||
| XM_011538266.1:c.49-1G>A | XP_011536568.1:n.49-1G>A | |
| XM_011538267.1:c.49-1G>A | XP_011536569.1:n.49-1G>A | |
| XM_011538268.1:c.18-1G>A | XP_011536570.1:n.18-1G>A | |
| XM_011538269.1:c.15-1G>A | XP_011536571.1:n.15-1G>A | |
| XM_011538267.3:c.49-1G>A | XP_011536569.1:n.49-1G>A | |
| XM_011538268.2:c.18-1G>A | XP_011536570.1:n.18-1G>A | |
| XM_011538269.2:c.15-1G>A | XP_011536571.1:n.15-1G>A | |
| XM_024448961.1:c.291-1G>A | XP_024304729.1:n.291-1G>A | |
| NM_052845.4:c.291-1G>A MANE Select | NP_443077.1:n.291-1G>A | |
| NR_038118.2:n.315-1G>A |