Linked Data
dbSNP Id:
rs1221011175
gnomAD v2:
16-2156577-C-T
gnomAD v3:
16-2106576-C-T
gnomAD v4:
16-2106576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106576C>T , CM000678.2:g.2106576C>T | GRCh38 |
| NC_000016.9:g.2156577C>T , CM000678.1:g.2156577C>T | GRCh37 |
| NC_000016.8:g.2096578C>T | NCBI36 |
| NG_008617.1:g.34323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7311G>A MANE Select | ENSP00000262304.4:p.Val2437= | |
| ENST00000262304.8:c.7311G>A | ENSP00000262304.4:p.Val2437= | |
| ENST00000415938.7:n.556G>A | ||
| ENST00000423118.5:c.7311G>A | ENSP00000399501.1:p.Val2437= | |
| ENST00000483558.5:n.370G>A | ||
| ENST00000483731.5:n.1036G>A | ||
| ENST00000486339.6:n.1057G>A | ||
| ENST00000487932.5:c.1998G>A | ENSP00000457132.1:p.Val666= | |
| ENST00000496574.6:n.1314G>A | ||
| ENST00000565639.6:n.1019G>A | ||
| ENST00000568591.5:c.2472G>A | ENSP00000457162.1:n.2472G>A | |
| ENST00000569983.5:n.667G>A | ||
| NM_000296.3:c.7311G>A | NP_000287.3:p.Val2437= | |
| NM_001009944.2:c.7311G>A | NP_001009944.2:p.Val2437= | |
| XM_005255370.2:c.4266G>A | XP_005255427.1:p.Val1422= | |
| XM_011522525.1:c.7389G>A | XP_011520827.1:p.Val2463= | |
| XM_011522526.1:c.7389G>A | XP_011520828.1:p.Val2463= | |
| XM_011522527.1:c.7389G>A | XP_011520829.1:p.Val2463= | |
| XM_011522528.1:c.7365G>A | XP_011520830.1:p.Val2455= | |
| XM_011522529.1:c.7365G>A | XP_011520831.1:p.Val2455= | |
| XM_011522530.1:c.7335G>A | XP_011520832.1:p.Val2445= | |
| XM_011522531.1:c.7317G>A | XP_011520833.1:p.Val2439= | |
| XM_011522532.1:c.7263G>A | XP_011520834.1:p.Val2421= | |
| XM_011522533.1:c.7182G>A | XP_011520835.1:p.Val2394= | |
| XM_011522534.1:c.7125G>A | XP_011520836.1:p.Val2375= | |
| XM_011522535.1:c.5211G>A | XP_011520837.1:p.Val1737= | |
| XM_011522536.1:c.7389G>A | XP_011520838.1:p.Val2463= | |
| XM_011522537.1:c.4389G>A | XP_011520839.1:p.Val1463= | |
| XR_932867.1:n.7404G>A | ||
| XR_932868.1:n.7404G>A | ||
| XR_932869.1:n.7404G>A | ||
| XR_932870.1:n.7404G>A | ||
| XM_005255370.3:c.4266G>A | XP_005255427.1:p.Val1422= | |
| XM_011522528.3:c.7365G>A | XP_011520830.1:p.Val2455= | |
| XM_011522529.2:c.7365G>A | XP_011520831.1:p.Val2455= | |
| XM_011522537.2:c.4389G>A | XP_011520839.1:p.Val1463= | |
| XM_024450298.1:c.7431G>A | XP_024306066.1:p.Val2477= | |
| XM_024450299.1:c.7359G>A | XP_024306067.1:p.Val2453= | |
| XM_024450300.1:c.7221G>A | XP_024306068.1:p.Val2407= | |
| XM_024450301.1:c.5307G>A | XP_024306069.1:p.Val1769= | |
| NM_000296.4:c.7311G>A | NP_000287.4:p.Val2437= | |
| NM_001009944.3:c.7311G>A MANE Select | NP_001009944.3:p.Val2437= |