Linked Data
dbSNP Id:
rs222043
gnomAD v2:
4-72611699-G-A
gnomAD v3:
4-71745982-G-A
gnomAD v4:
4-71745982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71745982G>A , CM000666.2:g.71745982G>A | GRCh38 |
| NC_000004.11:g.72611699G>A , CM000666.1:g.72611699G>A | GRCh37 |
| NC_000004.10:g.72830563G>A | NCBI36 |
| NG_012837.2:g.64539C>T | |
| NG_012837.3:g.64539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.13:c.*25+169C>T MANE Select | ENSP00000273951.8:n.*25+169C>T | |
| ENST00000273951.12:c.*25+169C>T | ENSP00000273951.8:n.*25+169C>T | |
| ENST00000503364.5:n.123+169C>T | ||
| ENST00000503472.5:n.1334+169C>T | ||
| ENST00000504199.5:c.*25+169C>T | ENSP00000421725.1:n.*25+169C>T | |
| ENST00000509740.5:c.*273+169C>T | ENSP00000422664.1:n.*273+169C>T | |
| ENST00000513476.5:c.1396-4112C>T | ENSP00000426683.1:n.1396-4112C>T | |
| NM_000583.3:c.*25+169C>T | NP_000574.2:n.*25+169C>T | |
| NM_001204306.1:c.*25+169C>T | NP_001191235.1:n.*25+169C>T | |
| NM_001204307.1:c.*25+169C>T | NP_001191236.1:n.*25+169C>T | |
| XM_006714177.2:c.*39+169C>T | XP_006714240.1:n.*39+169C>T | |
| XM_006714177.3:c.*39+169C>T | XP_006714240.1:n.*39+169C>T | |
| NM_000583.4:c.*25+169C>T MANE Select | NP_000574.2:n.*25+169C>T |