Linked Data
dbSNP Id:
rs751408912
ExAC:
1:202097542 G / T
gnomAD v2:
1-202097542-G-T
gnomAD v3:
1-202128414-G-T
gnomAD v4:
1-202128414-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128414G>T , CM000663.2:g.202128414G>T | GRCh38 |
| NC_000001.10:g.202097542G>T , CM000663.1:g.202097542G>T | GRCh37 |
| NC_000001.9:g.200364165G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.885G>T | ||
| ENST00000682545.1:c.*310G>T | ENSP00000508402.1:n.*310G>T | |
| ENST00000682887.1:c.1705G>T | ENSP00000506946.1:n.1705G>T | |
| ENST00000683302.1:c.1235G>T | ENSP00000507885.1:p.Cys412Phe | |
| ENST00000683557.1:c.*136G>T | ENSP00000508029.1:n.*136G>T | |
| ENST00000367282.6:c.1304G>T MANE Select | ENSP00000356251.4:p.Cys435Phe | |
| ENST00000367282.5:c.1304G>T | ENSP00000356251.4:p.Cys435Phe | |
| NM_004767.3:c.1304G>T | NP_004758.3:p.Cys435Phe | |
| XM_011510158.1:c.743G>T | XP_011508460.1:p.Cys248Phe | |
| NM_004767.4:c.1304G>T | NP_004758.3:p.Cys435Phe | |
| XM_011510158.2:c.743G>T | XP_011508460.1:p.Cys248Phe | |
| NM_004767.5:c.1304G>T MANE Select | NP_004758.3:p.Cys435Phe |