Linked Data
dbSNP Id:
rs121912488
ExAC:
3:49168562 G / A
gnomAD v2:
3-49168562-G-A
gnomAD v3:
3-49131129-G-A
gnomAD v4:
3-49131129-G-A
COSMIC:
COSM1213032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49131129G>A , CM000665.2:g.49131129G>A | GRCh38 |
| NC_000003.11:g.49168562G>A , CM000665.1:g.49168562G>A | GRCh37 |
| NC_000003.10:g.49143566G>A | NCBI36 |
| NG_008094.1:g.7038C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.736C>T MANE Select | ENSP00000307156.4:p.Arg246Trp | |
| ENST00000305544.8:c.736C>T | ENSP00000307156.4:p.Arg246Trp | |
| ENST00000418109.5:c.736C>T | ENSP00000388325.1:p.Arg246Trp | |
| ENST00000494831.1:c.289C>T | ENSP00000444751.1:p.Arg97Trp | |
| NM_002292.3:c.736C>T | NP_002283.3:p.Arg246Trp | |
| XM_005265127.3:c.736C>T | XP_005265184.1:p.Arg246Trp | |
| XM_005265127.4:c.736C>T | XP_005265184.1:p.Arg246Trp | |
| NM_002292.4:c.736C>T MANE Select | NP_002283.3:p.Arg246Trp |