Linked Data
dbSNP Id:
rs760377906
ExAC:
17:79826729 G / A
gnomAD v2:
17-79826729-G-A
gnomAD v3:
17-81868853-G-A
gnomAD v4:
17-81868853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81868853G>A , CM000679.2:g.81868853G>A | GRCh38 |
| NC_000017.10:g.79826729G>A , CM000679.1:g.79826729G>A | GRCh37 |
| NC_000017.9:g.77420018G>A | NCBI36 |
| NG_034210.1:g.7554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.*23C>T MANE Select | ENSP00000269321.7:n.*23C>T | |
| ENST00000269321.11:c.*23C>T | ENSP00000269321.7:n.*23C>T | |
| ENST00000400721.8:c.*23C>T | ENSP00000383556.4:n.*23C>T | |
| ENST00000541078.6:c.*23C>T | ENSP00000441348.2:n.*23C>T | |
| ENST00000579121.5:c.502+136C>T | ENSP00000462960.1:n.502+136C>T | |
| ENST00000580685.5:c.*23C>T | ENSP00000464205.1:n.*23C>T | |
| ENST00000581876.5:c.*23C>T | ENSP00000461956.1:n.*23C>T | |
| ENST00000583868.5:c.526C>T | ENSP00000462209.1:p.Gln176Ter | |
| ENST00000584461.5:c.502+136C>T | ENSP00000463939.1:n.502+136C>T | |
| NM_001185077.2:c.*23C>T | NP_001172006.1:n.*23C>T | |
| NM_001185078.2:c.*23C>T | NP_001172007.1:n.*23C>T | |
| NM_001301240.1:c.502+136C>T | NP_001288169.1:n.502+136C>T | |
| NM_001301241.1:c.502+136C>T | NP_001288170.1:n.502+136C>T | |
| NM_001301242.1:c.526C>T | NP_001288171.1:p.Gln176Ter | |
| NM_001301243.1:c.*23C>T | NP_001288172.1:n.*23C>T | |
| NM_004309.5:c.*23C>T | NP_004300.1:n.*23C>T | |
| NR_125441.1:n.697C>T | ||
| XM_011523574.1:c.*23C>T | XP_011521876.1:n.*23C>T | |
| NM_004309.6:c.*23C>T MANE Select | NP_004300.1:n.*23C>T | |
| NM_001185077.3:c.*23C>T | NP_001172006.1:n.*23C>T | |
| NM_001185078.3:c.*23C>T | NP_001172007.1:n.*23C>T | |
| NM_001301240.2:c.502+136C>T | NP_001288169.1:n.502+136C>T | |
| NM_001301241.2:c.502+136C>T | NP_001288170.1:n.502+136C>T | |
| NM_001301242.2:c.526C>T | NP_001288171.1:p.Gln176Ter | |
| NM_001301243.2:c.*23C>T | NP_001288172.1:n.*23C>T | |
| NR_125441.2:n.628C>T |