Linked Data
dbSNP Id:
rs62262721
gnomAD v2:
3-49768927-T-C
gnomAD v3:
3-49731494-T-C
gnomAD v4:
3-49731494-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49731494T>C , CM000665.2:g.49731494T>C | GRCh38 |
| NC_000003.11:g.49768927T>C , CM000665.1:g.49768927T>C | GRCh37 |
| NC_000003.10:g.49743931T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321599.9:c.616+1297A>G MANE Select | ENSP00000323780.4:n.616+1297A>G | |
| ENST00000321599.8:c.616+1297A>G | ENSP00000323780.4:n.616+1297A>G | |
| ENST00000395238.5:c.121+1297A>G | ENSP00000378659.1:n.121+1297A>G | |
| ENST00000460540.1:c.121+1297A>G | ENSP00000420762.1:n.121+1297A>G | |
| ENST00000468463.5:c.616+1297A>G | ENSP00000420467.1:n.616+1297A>G | |
| ENST00000613416.4:c.616+1297A>G | ENSP00000482032.1:n.616+1297A>G | |
| NM_001006115.2:c.121+1297A>G | NP_001006115.1:n.121+1297A>G | |
| NM_001242829.1:c.616+1297A>G | NP_001229758.1:n.616+1297A>G | |
| NM_153273.3:c.616+1297A>G | NP_695005.1:n.616+1297A>G | |
| NM_153273.4:c.616+1297A>G MANE Select | NP_695005.1:n.616+1297A>G | |
| NM_001006115.3:c.121+1297A>G | NP_001006115.1:n.121+1297A>G | |
| NM_001242829.2:c.616+1297A>G | NP_001229758.1:n.616+1297A>G |