Linked Data
dbSNP Id:
rs2239751
ExAC:
3:50647888 T / G
gnomAD v2:
3-50647888-T-G
gnomAD v3:
3-50610457-T-G
gnomAD v4:
3-50610457-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50610457T>G , CM000665.2:g.50610457T>G | GRCh38 |
| NC_000003.11:g.50647888T>G , CM000665.1:g.50647888T>G | GRCh37 |
| NC_000003.10:g.50622892T>G | NCBI36 |
| NG_023194.1:g.6375A>C | |
| NG_051548.1:g.3596T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348721.4:c.20+1174A>C MANE Select | ENSP00000294173.3:n.20+1174A>C | |
| ENST00000348721.3:c.20+1174A>C | ENSP00000294173.3:n.20+1174A>C | |
| ENST00000443053.6:c.-14A>C | ENSP00000409346.2:n.-14A>C | |
| ENST00000491847.1:n.1305A>C | ||
| NM_013324.5:c.-14A>C | NP_037456.5:n.-14A>C | |
| NM_145071.2:c.20+1174A>C | NP_659508.1:n.20+1174A>C | |
| XM_011533329.1:c.-1826A>C | XP_011531631.1:n.-1826A>C | |
| XM_011533329.2:c.-1826A>C | XP_011531631.1:n.-1826A>C | |
| NM_013324.6:c.-14A>C | NP_037456.5:n.-14A>C | |
| NM_145071.3:c.20+1174A>C | NP_659508.1:n.20+1174A>C | |
| NM_013324.7:c.-14A>C | NP_037456.5:n.-14A>C | |
| NM_145071.4:c.20+1174A>C MANE Select | NP_659508.1:n.20+1174A>C |