Linked Data
dbSNP Id:
rs770734060
ExAC:
3:119526303 A / G
gnomAD v2:
3-119526303-A-G
gnomAD v3:
3-119807456-A-G
gnomAD v4:
3-119807456-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807456A>G , CM000665.2:g.119807456A>G | GRCh38 |
| NC_000003.11:g.119526303A>G , CM000665.1:g.119526303A>G | GRCh37 |
| NC_000003.10:g.121008993A>G | NCBI36 |
| NG_011856.1:g.31973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.197+9A>G MANE Select | ENSP00000377319.3:n.197+9A>G | |
| ENST00000466380.6:c.197+9A>G | ENSP00000420297.2:n.197+9A>G | |
| ENST00000648112.1:c.*229A>G | ENSP00000497876.1:n.*229A>G | |
| ENST00000337940.4:c.314+9A>G | ENSP00000336528.4:n.314+9A>G | |
| ENST00000393716.6:c.197+9A>G | ENSP00000377319.2:n.197+9A>G | |
| ENST00000466380.5:c.197+9A>G | ENSP00000420297.1:n.197+9A>G | |
| ENST00000474090.1:n.485+9A>G | ||
| NM_003889.3:c.197+9A>G | NP_003880.3:n.197+9A>G | |
| NM_022002.2:c.314+9A>G | NP_071285.1:n.314+9A>G | |
| NM_033013.2:c.197+9A>G | NP_148934.1:n.197+9A>G | |
| NM_003889.4:c.197+9A>G MANE Select | NP_003880.3:n.197+9A>G | |
| NM_022002.3:c.314+9A>G | NP_071285.1:n.314+9A>G | |
| NM_033013.3:c.197+9A>G | NP_148934.1:n.197+9A>G |