Linked Data
ClinVar Variation Id:
325121
dbSNP Id:
rs200500313
ExAC:
17:73723532 G / A
gnomAD v2:
17-73723532-G-A
gnomAD v3:
17-75727451-G-A
gnomAD v4:
17-75727451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75727451G>A , CM000679.2:g.75727451G>A | GRCh38 |
| NC_000017.10:g.73723532G>A , CM000679.1:g.73723532G>A | GRCh37 |
| NC_000017.9:g.71235127G>A | NCBI36 |
| NG_007372.1:g.11017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.210G>A | ENSP00000400217.2:p.Ala70= | |
| ENST00000200181.8:c.210G>A MANE Select | ENSP00000200181.3:p.Ala70= | |
| ENST00000200181.7:c.210G>A | ENSP00000200181.3:p.Ala70= | |
| ENST00000449880.6:c.210G>A | ENSP00000400217.2:p.Ala70= | |
| ENST00000450894.7:c.210G>A | ENSP00000405536.3:p.Ala70= | |
| ENST00000579662.5:c.210G>A | ENSP00000463651.1:p.Ala70= | |
| ENST00000580542.5:n.275G>A | ||
| ENST00000584558.5:n.210G>A | ||
| NM_000213.3:c.210G>A | NP_000204.3:p.Ala70= | |
| NM_001005619.1:c.210G>A | NP_001005619.1:p.Ala70= | |
| NM_001005731.1:c.210G>A | NP_001005731.1:p.Ala70= | |
| XM_005257309.2:c.210G>A | XP_005257366.1:p.Ala70= | |
| XM_005257311.3:c.210G>A | XP_005257368.1:p.Ala70= | |
| XM_005257312.2:c.210G>A | XP_005257369.1:p.Ala70= | |
| XM_006721866.2:c.315G>A | XP_006721929.1:p.Ala105= | |
| XM_006721867.2:c.315G>A | XP_006721930.1:p.Ala105= | |
| XM_006721868.2:c.315G>A | XP_006721931.1:p.Ala105= | |
| XM_006721870.2:c.315G>A | XP_006721933.1:p.Ala105= | |
| XM_011524751.1:c.315G>A | XP_011523053.1:p.Ala105= | |
| NM_000213.4:c.210G>A | NP_000204.3:p.Ala70= | |
| NM_001005731.2:c.210G>A | NP_001005731.1:p.Ala70= | |
| NM_001321123.1:c.210G>A | NP_001308052.1:p.Ala70= | |
| XM_005257311.4:c.210G>A | XP_005257368.1:p.Ala70= | |
| XM_006721866.3:c.315G>A | XP_006721929.1:p.Ala105= | |
| XM_006721867.3:c.315G>A | XP_006721930.1:p.Ala105= | |
| XM_006721868.3:c.315G>A | XP_006721931.1:p.Ala105= | |
| XM_006721870.3:c.315G>A | XP_006721933.1:p.Ala105= | |
| XM_011524751.2:c.315G>A | XP_011523053.1:p.Ala105= | |
| NM_000213.5:c.210G>A MANE Select | NP_000204.3:p.Ala70= | |
| NM_001005731.3:c.210G>A | NP_001005731.1:p.Ala70= | |
| NM_001321123.2:c.210G>A | NP_001308052.1:p.Ala70= |