Linked Data
dbSNP Id:
rs1278814615
gnomAD v2:
X-129199737-A-C
gnomAD v3:
X-130065762-A-C
gnomAD v4:
X-130065762-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.130065762A>C , CM000685.2:g.130065762A>C | GRCh38 |
| NC_000023.10:g.129199737A>C , CM000685.1:g.129199737A>C | GRCh37 |
| NC_000023.9:g.129027418A>C | NCBI36 |
| NG_016388.1:g.49952T>G , LRG_335:g.49952T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308167.10:c.*959T>G MANE Select | ENSP00000311280.6:n.*959T>G | |
| ENST00000308167.9:c.*959T>G | ENSP00000311280.5:n.*959T>G | |
| ENST00000335997.11:c.*959T>G | ENSP00000338608.7:n.*959T>G | |
| ENST00000615377.4:c.*959T>G | ENSP00000478297.1:n.*959T>G | |
| NM_001127197.1:c.*959T>G | NP_001120669.1:n.*959T>G | |
| NM_001421.3:c.*959T>G , LRG_335t1:c.*959T>G | NP_001412.1:n.*959T>G | |
| XM_005262389.2:c.*959T>G | XP_005262446.1:n.*959T>G | |
| XM_011531307.1:c.*959T>G | XP_011529609.1:n.*959T>G | |
| XM_011531308.1:c.*959T>G | XP_011529610.1:n.*959T>G | |
| XM_005262389.3:c.*959T>G | XP_005262446.1:n.*959T>G | |
| XM_011531307.3:c.*959T>G | XP_011529609.1:n.*959T>G | |
| XM_011531308.3:c.*959T>G | XP_011529610.1:n.*959T>G | |
| NM_001127197.2:c.*959T>G | NP_001120669.1:n.*959T>G | |
| NM_001421.4:c.*959T>G MANE Select | NP_001412.1:n.*959T>G |