Linked Data
dbSNP Id:
rs757528548
ExAC:
1:214830553 A / C
gnomAD v2:
1-214830553-A-C
gnomAD v3:
1-214657210-A-C
gnomAD v4:
1-214657210-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214657210A>C , CM000663.2:g.214657210A>C | GRCh38 |
| NC_000001.10:g.214830553A>C , CM000663.1:g.214830553A>C | GRCh37 |
| NC_000001.9:g.212897176A>C | NCBI36 |
| NG_046787.1:g.59032A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706765.1:c.8586A>C | ENSP00000516538.1:p.Leu2862Phe | |
| ENST00000706766.1:n.862A>C | ||
| ENST00000366955.8:c.8763A>C MANE Select | ENSP00000355922.3:p.Leu2921Phe | |
| ENST00000366955.7:c.8763A>C | ENSP00000355922.3:p.Leu2921Phe | |
| ENST00000469862.1:n.534A>C | ||
| NM_016343.3:c.8763A>C | NP_057427.3:p.Leu2921Phe | |
| XM_011509082.1:c.8586A>C | XP_011507384.1:p.Leu2862Phe | |
| XM_011509083.1:c.7698A>C | XP_011507385.1:p.Leu2566Phe | |
| XM_011509082.3:c.8586A>C | XP_011507384.1:p.Leu2862Phe | |
| XM_017000086.2:c.8763A>C | XP_016855575.1:p.Leu2921Phe | |
| NM_016343.4:c.8763A>C MANE Select | NP_057427.3:p.Leu2921Phe |