Linked Data
dbSNP Id:
rs1162333377
gnomAD v2:
9-140353485-G-A
gnomAD v3:
9-137459033-G-A
gnomAD v4:
9-137459033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137459033G>A , CM000671.2:g.137459033G>A | GRCh38 |
| NC_000009.11:g.140353485G>A , CM000671.1:g.140353485G>A | GRCh37 |
| NC_000009.10:g.139473306G>A | NCBI36 |
| NG_021362.1:g.5302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265663.12:c.70C>T | ENSP00000265663.7:p.Arg24Ter | |
| ENST00000371475.9:c.70C>T MANE Select | ENSP00000360530.3:p.Arg24Ter | |
| ENST00000265663.11:c.70C>T | ENSP00000265663.7:p.Arg24Ter | |
| ENST00000371472.6:c.70C>T | ENSP00000360527.1:p.Arg24Ter | |
| ENST00000371473.7:c.70C>T | ENSP00000360528.3:p.Arg24Ter | |
| ENST00000371474.7:c.70C>T | ENSP00000360529.3:p.Arg24Ter | |
| ENST00000371475.7:c.70C>T | ENSP00000360530.3:p.Arg24Ter | |
| ENST00000437259.5:c.70C>T | ENSP00000412007.1:p.Arg24Ter | |
| NM_001130969.1:c.70C>T | NP_001124441.1:p.Arg24Ter | |
| NM_001130970.1:c.70C>T | NP_001124442.1:p.Arg24Ter | |
| NM_001130971.1:c.70C>T | NP_001124443.1:p.Arg24Ter | |
| NM_001178064.1:c.70C>T | NP_001171535.1:p.Arg24Ter | |
| NM_015537.4:c.70C>T | NP_056352.3:p.Arg24Ter | |
| XM_005266061.3:c.70C>T | XP_005266118.1:p.Arg24Ter | |
| XM_005266062.3:c.70C>T | XP_005266119.1:p.Arg24Ter | |
| XM_011518496.1:c.70C>T | XP_011516798.1:p.Arg24Ter | |
| XM_005266061.5:c.70C>T | XP_005266118.1:p.Arg24Ter | |
| XM_005266062.5:c.70C>T | XP_005266119.1:p.Arg24Ter | |
| XM_011518496.3:c.70C>T | XP_011516798.1:p.Arg24Ter | |
| NM_001130969.3:c.70C>T MANE Select | NP_001124441.1:p.Arg24Ter | |
| NM_001130970.2:c.70C>T | NP_001124442.1:p.Arg24Ter | |
| NM_001130971.2:c.70C>T | NP_001124443.1:p.Arg24Ter | |
| NM_001178064.2:c.70C>T | NP_001171535.1:p.Arg24Ter | |
| NM_015537.5:c.70C>T | NP_056352.3:p.Arg24Ter |