Linked Data
dbSNP Id:
rs371393264
ExAC:
9:123725224 G / A
gnomAD v2:
9-123725224-G-A
gnomAD v3:
9-120962946-G-A
gnomAD v4:
9-120962946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962946G>A , CM000671.2:g.120962946G>A | GRCh38 |
| NC_000009.11:g.123725224G>A , CM000671.1:g.123725224G>A | GRCh37 |
| NC_000009.10:g.122765045G>A | NCBI36 |
| NG_007364.1:g.92331C>T , LRG_28:g.92331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1379C>T | ||
| ENST00000696279.1:c.4665C>T | ||
| ENST00000696280.1:n.4434C>T | ||
| ENST00000696281.1:c.4363C>T | ENSP00000512521.1:p.Leu1455= | |
| ENST00000697921.1:n.3223C>T | ||
| ENST00000697922.1:c.*4335C>T | ENSP00000513478.1:n.*4335C>T | |
| ENST00000697923.1:n.4790C>T | ||
| ENST00000223642.3:c.4345C>T MANE Select | ENSP00000223642.1:p.Leu1449= | |
| ENST00000223642.2:c.4345C>T | ENSP00000223642.1:p.Leu1449= | |
| NM_001735.2:c.4345C>T , LRG_28t1:c.4345C>T | NP_001726.2:p.Leu1449= | |
| XM_011518980.1:c.4360C>T | XP_011517282.1:p.Leu1454= | |
| NM_001317163.1:c.4363C>T | NP_001304092.1:p.Leu1455= | |
| NM_001317163.2:c.4363C>T | NP_001304092.1:p.Leu1455= | |
| NM_001735.3:c.4345C>T MANE Select | NP_001726.2:p.Leu1449= |