Linked Data
ClinVar Variation Id:
325175
dbSNP Id:
rs750423295
ExAC:
17:73745025 G / A
gnomAD v2:
17-73745025-G-A
gnomAD v3:
17-75748944-G-A
gnomAD v4:
17-75748944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75748944G>A , CM000679.2:g.75748944G>A | GRCh38 |
| NC_000017.10:g.73745025G>A , CM000679.1:g.73745025G>A | GRCh37 |
| NC_000017.9:g.71256620G>A | NCBI36 |
| NG_007372.1:g.32510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.3215G>A | ENSP00000400217.2:p.Arg1072Gln | |
| ENST00000200181.8:c.3215G>A MANE Select | ENSP00000200181.3:p.Arg1072Gln | |
| ENST00000200181.7:c.3215G>A | ENSP00000200181.3:p.Arg1072Gln | |
| ENST00000449880.6:c.3215G>A | ENSP00000400217.2:p.Arg1072Gln | |
| ENST00000450894.7:c.3215G>A | ENSP00000405536.3:p.Arg1072Gln | |
| ENST00000579662.5:c.3215G>A | ENSP00000463651.1:p.Arg1072Gln | |
| ENST00000582629.1:c.266-8682G>A | ENSP00000463788.1:n.266-8682G>A | |
| ENST00000584025.1:n.703G>A | ||
| NM_000213.3:c.3215G>A | NP_000204.3:p.Arg1072Gln | |
| NM_001005619.1:c.3215G>A | NP_001005619.1:p.Arg1072Gln | |
| NM_001005731.1:c.3215G>A | NP_001005731.1:p.Arg1072Gln | |
| XM_005257309.2:c.3215G>A | XP_005257366.1:p.Arg1072Gln | |
| XM_005257311.3:c.3215G>A | XP_005257368.1:p.Arg1072Gln | |
| XM_005257312.2:c.3215G>A | XP_005257369.1:p.Arg1072Gln | |
| XM_006721866.2:c.3320G>A | XP_006721929.1:p.Arg1107Gln | |
| XM_006721867.2:c.3320G>A | XP_006721930.1:p.Arg1107Gln | |
| XM_006721868.2:c.3320G>A | XP_006721931.1:p.Arg1107Gln | |
| XM_006721870.2:c.3320G>A | XP_006721933.1:p.Arg1107Gln | |
| XM_011524751.1:c.3320G>A | XP_011523053.1:p.Arg1107Gln | |
| XM_011524752.1:c.1160G>A | XP_011523054.1:p.Arg387Gln | |
| NM_000213.4:c.3215G>A | NP_000204.3:p.Arg1072Gln | |
| NM_001005731.2:c.3215G>A | NP_001005731.1:p.Arg1072Gln | |
| NM_001321123.1:c.3215G>A | NP_001308052.1:p.Arg1072Gln | |
| XM_005257311.4:c.3215G>A | XP_005257368.1:p.Arg1072Gln | |
| XM_006721866.3:c.3320G>A | XP_006721929.1:p.Arg1107Gln | |
| XM_006721867.3:c.3320G>A | XP_006721930.1:p.Arg1107Gln | |
| XM_006721868.3:c.3320G>A | XP_006721931.1:p.Arg1107Gln | |
| XM_006721870.3:c.3320G>A | XP_006721933.1:p.Arg1107Gln | |
| XM_011524751.2:c.3320G>A | XP_011523053.1:p.Arg1107Gln | |
| XM_011524752.2:c.1160G>A | XP_011523054.1:p.Arg387Gln | |
| NM_000213.5:c.3215G>A MANE Select | NP_000204.3:p.Arg1072Gln | |
| NM_001005731.3:c.3215G>A | NP_001005731.1:p.Arg1072Gln | |
| NM_001321123.2:c.3215G>A | NP_001308052.1:p.Arg1072Gln |