Linked Data
ClinVar Variation Id:
212138
dbSNP Id:
rs150646039
ExAC:
1:243542050 G / C
gnomAD v2:
1-243542050-G-C
gnomAD v3:
1-243378748-G-C
gnomAD v4:
1-243378748-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243378748G>C , CM000663.2:g.243378748G>C | GRCh38 |
| NC_000001.10:g.243542050G>C , CM000663.1:g.243542050G>C | GRCh37 |
| NC_000001.9:g.241608673G>C | NCBI36 |
| NG_027811.1:g.127744G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1501G>C MANE Select | ENSP00000355499.3:p.Asp501His | |
| ENST00000366541.7:c.1501G>C | ENSP00000355499.3:p.Asp501His | |
| ENST00000435549.1:c.841G>C | ENSP00000410200.1:p.Asp281His | |
| ENST00000493334.1:n.468G>C | ||
| NM_006642.3:c.1501G>C | NP_006633.1:p.Asp501His | |
| XM_005273013.3:c.1372G>C | XP_005273070.1:p.Asp458His | |
| XM_005273018.1:c.1078G>C | XP_005273075.1:p.Asp360His | |
| XM_005273021.3:c.598G>C | XP_005273078.1:p.Asp200His | |
| XM_005273022.2:c.580G>C | XP_005273079.1:p.Asp194His | |
| XM_006711727.2:c.1531G>C | XP_006711790.1:p.Asp511His | |
| XM_006711728.2:c.1402G>C | XP_006711791.1:p.Asp468His | |
| XM_006711729.2:c.1342G>C | XP_006711792.1:p.Asp448His | |
| XM_011544021.1:c.1627G>C | XP_011542323.1:p.Asp543His | |
| XM_011544022.1:c.1597G>C | XP_011542324.1:p.Asp533His | |
| XM_011544023.1:c.1627G>C | XP_011542325.1:p.Asp543His | |
| XM_011544024.1:c.1627G>C | XP_011542326.1:p.Asp543His | |
| XM_011544025.1:c.1438G>C | XP_011542327.1:p.Asp480His | |
| XM_011544026.1:c.1627G>C | XP_011542328.1:p.Asp543His | |
| XM_011544027.1:c.1213G>C | XP_011542329.1:p.Asp405His | |
| XM_011544028.1:c.1402G>C | XP_011542330.1:p.Asp468His | |
| XM_011544030.1:c.556G>C | XP_011542332.1:p.Asp186His | |
| XR_949128.1:n.1651G>C | ||
| NM_001350246.1:c.598G>C | NP_001337175.1:p.Asp200His | |
| NM_001350247.1:c.598G>C | NP_001337176.1:p.Asp200His | |
| NM_001350248.1:c.1597G>C | NP_001337177.1:p.Asp533His | |
| NM_001350249.1:c.1207G>C | NP_001337178.1:p.Asp403His | |
| NM_001350251.1:c.598G>C | NP_001337180.1:p.Asp200His | |
| NM_006642.4:c.1501G>C | NP_006633.1:p.Asp501His | |
| XM_005273013.5:c.1372G>C | XP_005273070.1:p.Asp458His | |
| XM_005273018.2:c.1078G>C | XP_005273075.1:p.Asp360His | |
| XM_005273022.4:c.580G>C | XP_005273079.1:p.Asp194His | |
| XM_011544026.3:c.1627G>C | XP_011542328.1:p.Asp543His | |
| XM_011544028.3:c.1402G>C | XP_011542330.1:p.Asp468His | |
| XM_011544030.3:c.556G>C | XP_011542332.1:p.Asp186His | |
| XM_017000104.2:c.1372G>C | XP_016855593.1:p.Asp458His | |
| XM_017000105.2:c.1501G>C | XP_016855594.1:p.Asp501His | |
| XM_024452537.1:c.1303G>C | XP_024308305.1:p.Asp435His | |
| XM_024452539.1:c.1303G>C | XP_024308307.1:p.Asp435His | |
| XM_024452540.1:c.1303G>C | XP_024308308.1:p.Asp435His | |
| XM_024452547.1:c.1207G>C | XP_024308315.1:p.Asp403His | |
| XM_024452548.1:c.1303G>C | XP_024308316.1:p.Asp435His | |
| XM_024452549.1:c.1207G>C | XP_024308317.1:p.Asp403His | |
| XR_002958955.1:n.1543G>C | ||
| XR_002958956.1:n.1543G>C | ||
| XR_002958965.1:n.1543G>C | ||
| NM_006642.5:c.1501G>C MANE Select | NP_006633.1:p.Asp501His | |
| NM_001350246.2:c.598G>C | NP_001337175.1:p.Asp200His | |
| NM_001350247.2:c.598G>C | NP_001337176.1:p.Asp200His | |
| NM_001350248.2:c.1597G>C | NP_001337177.1:p.Asp533His | |
| NM_001350249.2:c.1207G>C | NP_001337178.1:p.Asp403His | |
| NM_001350251.2:c.598G>C | NP_001337180.1:p.Asp200His |