Linked Data
ClinVar Variation Id:
289543
dbSNP Id:
rs149111536
ExAC:
6:51484304 C / T
gnomAD v2:
6-51484304-C-T
gnomAD v3:
6-51619506-C-T
gnomAD v4:
6-51619506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619506C>T , CM000668.2:g.51619506C>T | GRCh38 |
| NC_000006.11:g.51484304C>T , CM000668.1:g.51484304C>T | GRCh37 |
| NC_000006.10:g.51592263C>T | NCBI36 |
| NG_008753.1:g.473120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11800G>A MANE Select | ENSP00000360158.3:p.Val3934Ile | |
| ENST00000371117.7:c.11800G>A | ENSP00000360158.3:p.Val3934Ile | |
| NM_138694.3:c.11800G>A | NP_619639.3:p.Val3934Ile | |
| XM_011514679.1:c.11800G>A | XP_011512981.1:p.Val3934Ile | |
| XM_011514680.1:c.11800G>A | XP_011512982.1:p.Val3934Ile | |
| XM_011514681.1:c.11671G>A | XP_011512983.1:p.Val3891Ile | |
| XM_011514682.1:c.11662G>A | XP_011512984.1:p.Val3888Ile | |
| XM_011514683.1:c.11158G>A | XP_011512985.1:p.Val3720Ile | |
| XM_011514684.1:c.11089G>A | XP_011512986.1:p.Val3697Ile | |
| XM_011514690.1:c.5875G>A | XP_011512992.1:p.Val1959Ile | |
| XM_011514691.1:c.5875G>A | XP_011512993.1:p.Val1959Ile | |
| XM_011514680.3:c.11800G>A | XP_011512982.1:p.Val3934Ile | |
| XM_011514682.3:c.11662G>A | XP_011512984.1:p.Val3888Ile | |
| XM_011514683.3:c.11158G>A | XP_011512985.1:p.Val3720Ile | |
| XM_011514684.3:c.11089G>A | XP_011512986.1:p.Val3697Ile | |
| XM_011514690.3:c.5875G>A | XP_011512992.1:p.Val1959Ile | |
| XM_011514691.3:c.5875G>A | XP_011512993.1:p.Val1959Ile | |
| XM_017010944.2:c.11800G>A | XP_016866433.1:p.Val3934Ile | |
| XM_017010945.2:c.11725G>A | XP_016866434.1:p.Val3909Ile | |
| XM_017010946.2:c.11605G>A | XP_016866435.1:p.Val3869Ile | |
| XM_017010947.2:c.11536G>A | XP_016866436.1:p.Val3846Ile | |
| XM_017010948.2:c.11089G>A | XP_016866437.1:p.Val3697Ile | |
| XM_017010949.2:c.9940G>A | XP_016866438.1:p.Val3314Ile | |
| NM_138694.4:c.11800G>A MANE Select | NP_619639.3:p.Val3934Ile |