Linked Data
dbSNP Id:
rs746097888
ExAC:
1:214795587 T / C
gnomAD v2:
1-214795587-T-C
gnomAD v4:
1-214622244-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214622244T>C , CM000663.2:g.214622244T>C | GRCh38 |
| NC_000001.10:g.214795587T>C , CM000663.1:g.214795587T>C | GRCh37 |
| NC_000001.9:g.212862210T>C | NCBI36 |
| NG_046787.1:g.24066T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706764.1:n.1209T>C | ||
| ENST00000706765.1:c.1031T>C | ENSP00000516538.1:p.Val344Ala | |
| ENST00000366955.8:c.1031T>C MANE Select | ENSP00000355922.3:p.Val344Ala | |
| ENST00000366955.7:c.1031T>C | ENSP00000355922.3:p.Val344Ala | |
| NM_016343.3:c.1031T>C | NP_057427.3:p.Val344Ala | |
| XM_011509082.1:c.1031T>C | XP_011507384.1:p.Val344Ala | |
| XM_011509082.3:c.1031T>C | XP_011507384.1:p.Val344Ala | |
| XM_017000086.2:c.1031T>C | XP_016855575.1:p.Val344Ala | |
| NM_016343.4:c.1031T>C MANE Select | NP_057427.3:p.Val344Ala |