Linked Data
ClinVar Variation Id:
406885
dbSNP Id:
rs201210830
ExAC:
6:51483998 G / A
gnomAD v2:
6-51483998-G-A
gnomAD v3:
6-51619200-G-A
gnomAD v4:
6-51619200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619200G>A , CM000668.2:g.51619200G>A | GRCh38 |
| NC_000006.11:g.51483998G>A , CM000668.1:g.51483998G>A | GRCh37 |
| NC_000006.10:g.51591957G>A | NCBI36 |
| NG_008753.1:g.473426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.12106C>T MANE Select | ENSP00000360158.3:p.Arg4036Trp | |
| ENST00000371117.7:c.12106C>T | ENSP00000360158.3:p.Arg4036Trp | |
| NM_138694.3:c.12106C>T | NP_619639.3:p.Arg4036Trp | |
| XM_011514679.1:c.12106C>T | XP_011512981.1:p.Arg4036Trp | |
| XM_011514680.1:c.12106C>T | XP_011512982.1:p.Arg4036Trp | |
| XM_011514681.1:c.11977C>T | XP_011512983.1:p.Arg3993Trp | |
| XM_011514682.1:c.11968C>T | XP_011512984.1:p.Arg3990Trp | |
| XM_011514683.1:c.11464C>T | XP_011512985.1:p.Arg3822Trp | |
| XM_011514684.1:c.11395C>T | XP_011512986.1:p.Arg3799Trp | |
| XM_011514690.1:c.6181C>T | XP_011512992.1:p.Arg2061Trp | |
| XM_011514691.1:c.6181C>T | XP_011512993.1:p.Arg2061Trp | |
| XM_011514680.3:c.12106C>T | XP_011512982.1:p.Arg4036Trp | |
| XM_011514682.3:c.11968C>T | XP_011512984.1:p.Arg3990Trp | |
| XM_011514683.3:c.11464C>T | XP_011512985.1:p.Arg3822Trp | |
| XM_011514684.3:c.11395C>T | XP_011512986.1:p.Arg3799Trp | |
| XM_011514690.3:c.6181C>T | XP_011512992.1:p.Arg2061Trp | |
| XM_011514691.3:c.6181C>T | XP_011512993.1:p.Arg2061Trp | |
| XM_017010944.2:c.12106C>T | XP_016866433.1:p.Arg4036Trp | |
| XM_017010945.2:c.12031C>T | XP_016866434.1:p.Arg4011Trp | |
| XM_017010946.2:c.11911C>T | XP_016866435.1:p.Arg3971Trp | |
| XM_017010947.2:c.11842C>T | XP_016866436.1:p.Arg3948Trp | |
| XM_017010948.2:c.11395C>T | XP_016866437.1:p.Arg3799Trp | |
| XM_017010949.2:c.10246C>T | XP_016866438.1:p.Arg3416Trp | |
| NM_138694.4:c.12106C>T MANE Select | NP_619639.3:p.Arg4036Trp |