Linked Data
ClinVar Variation Id:
663591
dbSNP Id:
rs199469471
ExAC:
2:128186025 G / C
gnomAD v2:
2-128186025-G-C
gnomAD v3:
2-127428449-G-C
gnomAD v4:
2-127428449-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428449G>C , CM000664.2:g.127428449G>C | GRCh38 |
| NC_000002.11:g.128186025G>C , CM000664.1:g.128186025G>C | GRCh37 |
| NC_000002.10:g.127902495G>C | NCBI36 |
| NG_016323.1:g.15030G>C , LRG_599:g.15030G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.889G>C MANE Select | ENSP00000234071.4:p.Asp297His | |
| ENST00000234071.7:c.889G>C | ENSP00000234071.3:p.Asp297His | |
| ENST00000402125.2:c.213G>C | ||
| ENST00000409048.1:c.991G>C | ENSP00000386679.1:p.Asp331His | |
| NM_000312.3:c.889G>C , LRG_599t1:c.889G>C | NP_000303.1:p.Asp297His | |
| XM_005263715.3:c.1072G>C | XP_005263772.1:p.Asp358His | |
| XM_005263716.3:c.1054G>C | XP_005263773.1:p.Asp352His | |
| XM_005263717.3:c.952G>C | XP_005263774.1:p.Asp318His | |
| XR_923313.1:n.1332-185C>G | ||
| XM_005263717.4:c.952G>C | XP_005263774.1:p.Asp318His | |
| XM_017004505.1:c.1132G>C | XP_016859994.1:p.Asp378His | |
| XM_024453002.1:c.1234G>C | XP_024308770.1:p.Asp412His | |
| XM_024453003.1:c.1174G>C | XP_024308771.1:p.Asp392His | |
| XM_024453004.1:c.1072G>C | XP_024308772.1:p.Asp358His | |
| XM_024453005.1:c.1054G>C | XP_024308773.1:p.Asp352His | |
| XM_024453006.1:c.991G>C | XP_024308774.1:p.Asp331His | |
| XR_001739705.1:n.3607-185C>G | ||
| XR_923313.2:n.4043-185C>G | ||
| NM_000312.4:c.889G>C MANE Select | NP_000303.1:p.Asp297His | |
| NM_001375602.1:c.1072G>C | NP_001362531.1:p.Asp358His | |
| NM_001375603.1:c.1054G>C | NP_001362532.1:p.Asp352His | |
| NM_001375604.1:c.952G>C | NP_001362533.1:p.Asp318His | |
| NM_001375605.1:c.991G>C | NP_001362534.1:p.Asp331His | |
| NM_001375606.1:c.1057G>C | NP_001362535.1:p.Asp353His | |
| NM_001375607.1:c.1075G>C | NP_001362536.1:p.Asp359His | |
| NM_001375608.1:c.832G>C | NP_001362537.1:p.Asp278His | |
| NM_001375609.1:c.865G>C | NP_001362538.1:p.Asp289His | |
| NM_001375610.1:c.883G>C | NP_001362539.1:p.Asp295His | |
| NM_001375611.1:c.889G>C | NP_001362540.1:p.Asp297His | |
| NM_001375613.1:c.889G>C | NP_001362542.1:p.Asp297His |