Linked Data
dbSNP Id:
rs1419218519
gnomAD v2:
16-56385826-A-G
gnomAD v3:
16-56351914-A-G
gnomAD v4:
16-56351914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351914A>G , CM000678.2:g.56351914A>G | GRCh38 |
| NC_000016.9:g.56385826A>G , CM000678.1:g.56385826A>G | GRCh37 |
| NC_000016.8:g.54943327A>G | NCBI36 |
| NG_042800.1:g.165576A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.877+377A>G MANE Select | ENSP00000262493.6:n.877+377A>G | |
| ENST00000562316.6:c.544+377A>G | ENSP00000457238.2:n.544+377A>G | |
| ENST00000564727.2:c.181+377A>G | ENSP00000454971.2:n.181+377A>G | |
| ENST00000568375.2:c.116-2952A>G | ||
| ENST00000638185.1:n.1092+377A>G | ||
| ENST00000638210.1:n.1177+377A>G | ||
| ENST00000638705.1:c.877+377A>G | ENSP00000491223.1:n.877+377A>G | |
| ENST00000638836.1:n.787+377A>G | ||
| ENST00000639055.1:n.1598+377A>G | ||
| ENST00000639251.1:n.778+377A>G | ||
| ENST00000639268.1:c.512+377A>G | ||
| ENST00000639341.1:c.402+377A>G | ||
| ENST00000639770.1:c.915+377A>G | ENSP00000491999.1:n.915+377A>G | |
| ENST00000640390.1:n.807+377A>G | ||
| ENST00000640469.1:c.241+377A>G | ENSP00000491875.1:n.241+377A>G | |
| ENST00000640560.1:n.653+377A>G | ||
| ENST00000640893.1:c.*275+377A>G | ENSP00000492677.1:n.*275+377A>G | |
| ENST00000262493.10:c.877+377A>G | ENSP00000262493.6:n.877+377A>G | |
| ENST00000564727.1:c.97+377A>G | ENSP00000454971.1:n.97+377A>G | |
| ENST00000568375.1:n.116-2952A>G | ||
| NM_020988.2:c.877+377A>G | NP_066268.1:n.877+377A>G | |
| XM_011523003.1:c.751+377A>G | XP_011521305.1:n.751+377A>G | |
| XM_011523003.3:c.751+377A>G | XP_011521305.1:n.751+377A>G | |
| NM_020988.3:c.877+377A>G MANE Select | NP_066268.1:n.877+377A>G |