Linked Data
dbSNP Id:
rs781511048
ExAC:
2:103057812 C / T
gnomAD v2:
2-103057812-C-T
gnomAD v3:
2-102441352-C-T
gnomAD v4:
2-102441352-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102441352C>T , CM000664.2:g.102441352C>T | GRCh38 |
| NC_000002.11:g.103057812C>T , CM000664.1:g.103057812C>T | GRCh37 |
| NC_000002.10:g.102424244C>T | NCBI36 |
| NG_011481.1:g.27559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687160.1:c.771C>T MANE Select | ENSP00000510345.1:p.Val257= | |
| ENST00000264260.6:c.771C>T | ENSP00000264260.2:p.Val257= | |
| ENST00000409369.1:c.345C>T | ENSP00000387201.1:p.Val115= | |
| NM_003853.3:c.771C>T | NP_003844.1:p.Val257= | |
| XM_011512087.1:c.345C>T | XP_011510389.1:p.Val115= | |
| XM_011512088.1:c.345C>T | XP_011510390.1:p.Val115= | |
| XM_011512089.1:c.771C>T | XP_011510391.1:p.Val257= | |
| XR_923052.1:n.1108C>T | ||
| XM_011512087.2:c.345C>T | XP_011510389.1:p.Val115= | |
| XM_011512088.2:c.345C>T | XP_011510390.1:p.Val115= | |
| XM_024453197.1:c.771C>T | XP_024308965.1:p.Val257= | |
| XM_024453198.1:c.771C>T | XP_024308966.1:p.Val257= | |
| XM_024453199.1:c.771C>T | XP_024308967.1:p.Val257= | |
| XM_024453200.1:c.771C>T | XP_024308968.1:p.Val257= | |
| XM_024453201.1:c.771C>T | XP_024308969.1:p.Val257= | |
| XR_001739011.2:n.1106C>T | ||
| NM_001393486.1:c.771C>T | NP_001380415.1:p.Val257= | |
| NM_001393487.1:c.771C>T MANE Select | NP_001380416.1:p.Val257= | |
| NM_001393488.1:c.345C>T | NP_001380417.1:p.Val115= | |
| NM_001393489.1:c.345C>T | NP_001380418.1:p.Val115= | |
| NM_003853.4:c.771C>T | NP_003844.1:p.Val257= |