Linked Data
ClinVar Variation Id:
360752
dbSNP Id:
rs374729345
ExAC:
7:80286000 G / T
gnomAD v2:
7-80286000-G-T
gnomAD v3:
7-80656684-G-T
gnomAD v4:
7-80656684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80656684G>T , CM000669.2:g.80656684G>T | GRCh38 |
| NC_000007.13:g.80286000G>T , CM000669.1:g.80286000G>T | GRCh37 |
| NC_000007.12:g.80123936G>T | NCBI36 |
| NG_008192.1:g.59497G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447544.7:c.265G>T MANE Select | ENSP00000415743.2:p.Gly89Cys | |
| ENST00000309881.11:c.265G>T | ENSP00000308165.7:p.Gly89Cys | |
| ENST00000394788.7:c.265G>T | ENSP00000378268.3:p.Gly89Cys | |
| ENST00000413265.5:c.265G>T | ENSP00000407690.1:p.Gly89Cys | |
| ENST00000419819.2:c.265G>T | ENSP00000392298.2:p.Gly89Cys | |
| ENST00000426978.5:c.265G>T | ENSP00000416388.1:p.Gly89Cys | |
| ENST00000428497.5:c.265G>T | ENSP00000409762.1:p.Gly89Cys | |
| ENST00000432207.5:c.265G>T | ENSP00000411411.1:p.Gly89Cys | |
| ENST00000433696.6:c.265G>T | ENSP00000401863.2:p.Gly89Cys | |
| ENST00000435819.5:c.265G>T | ENSP00000399421.1:p.Gly89Cys | |
| ENST00000436384.5:c.265G>T | ENSP00000398760.1:p.Gly89Cys | |
| ENST00000438020.5:c.265G>T | ENSP00000410371.1:p.Gly89Cys | |
| ENST00000441034.2:c.241+24G>T | ENSP00000396258.2:n.241+24G>T | |
| ENST00000447544.6:c.265G>T | ENSP00000415743.2:p.Gly89Cys | |
| ENST00000534394.5:c.37G>T | ENSP00000431296.1:p.Gly13Cys | |
| ENST00000538969.5:c.265G>T | ENSP00000439543.1:p.Gly89Cys | |
| ENST00000544133.5:c.265G>T | ENSP00000441956.1:p.Gly89Cys | |
| NM_000072.3:c.265G>T | NP_000063.2:p.Gly89Cys | |
| NM_001001547.2:c.265G>T | NP_001001547.1:p.Gly89Cys | |
| NM_001001548.2:c.265G>T | NP_001001548.1:p.Gly89Cys | |
| NM_001127443.1:c.265G>T | NP_001120915.1:p.Gly89Cys | |
| NM_001127444.1:c.265G>T | NP_001120916.1:p.Gly89Cys | |
| NM_001289908.1:c.265G>T | NP_001276837.1:p.Gly89Cys | |
| NM_001289909.1:c.265G>T | NP_001276838.1:p.Gly89Cys | |
| NM_001289911.1:c.37G>T | NP_001276840.1:p.Gly13Cys | |
| NR_110501.1:n.444G>T | ||
| XM_005250713.1:c.265G>T | XP_005250770.1:p.Gly89Cys | |
| XM_005250714.1:c.265G>T | XP_005250771.1:p.Gly89Cys | |
| XM_005250715.3:c.265G>T | XP_005250772.1:p.Gly89Cys | |
| XM_011516707.1:c.265G>T | XP_011515009.1:p.Gly89Cys | |
| XM_005250715.5:c.265G>T | XP_005250772.1:p.Gly89Cys | |
| XM_024447002.1:c.265G>T | XP_024302770.1:p.Gly89Cys | |
| XM_024447003.1:c.265G>T | XP_024302771.1:p.Gly89Cys | |
| NM_001001547.3:c.265G>T | NP_001001547.1:p.Gly89Cys | |
| NM_001127444.2:c.265G>T | NP_001120916.1:p.Gly89Cys | |
| NM_001289911.2:c.37G>T | NP_001276840.1:p.Gly13Cys | |
| NM_001371074.1:c.265G>T | NP_001358003.1:p.Gly89Cys | |
| NM_001371075.1:c.265G>T | NP_001358004.1:p.Gly89Cys | |
| NM_001371077.1:c.265G>T | NP_001358006.1:p.Gly89Cys | |
| NM_001371078.1:c.265G>T | NP_001358007.1:p.Gly89Cys | |
| NM_001371079.1:c.163G>T | NP_001358008.1:p.Gly55Cys | |
| NM_001371080.1:c.-184-4379G>T | NP_001358009.1:n.-184-4379G>T | |
| NM_001371081.1:c.-218G>T | NP_001358010.1:n.-218G>T | |
| NM_001001548.3:c.265G>T MANE Select | NP_001001548.1:p.Gly89Cys | |
| NM_001127443.2:c.265G>T | NP_001120915.1:p.Gly89Cys |