Linked Data
dbSNP Id:
rs11258747
ExAC:
10:6472891 G / C
gnomAD v2:
10-6472891-G-C
gnomAD v4:
10-6430929-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6430929G>C , CM000672.2:g.6430929G>C | GRCh38 |
| NC_000010.10:g.6472891G>C , CM000672.1:g.6472891G>C | GRCh37 |
| NC_000010.9:g.6512897G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263125.10:c.1846C>G MANE Select | ENSP00000263125.5:p.Arg616Gly | |
| ENST00000263125.9:c.1846C>G | ENSP00000263125.5:p.Arg616Gly | |
| ENST00000397176.6:c.1657C>G | ENSP00000380361.2:p.Arg553Gly | |
| ENST00000539722.5:c.1471C>G | ENSP00000441752.1:p.Arg491Gly | |
| ENST00000610727.1:c.1738C>G | ENSP00000483428.1:p.Arg580Gly | |
| NM_001242413.2:c.1657C>G | NP_001229342.1:p.Arg553Gly | |
| NM_001282644.1:c.1738C>G | NP_001269573.1:p.Arg580Gly | |
| NM_001282645.1:c.1471C>G | NP_001269574.1:p.Arg491Gly | |
| NM_006257.4:c.1846C>G | NP_006248.1:p.Arg616Gly | |
| XM_005252496.3:c.1948C>G | XP_005252553.1:p.Arg650Gly | |
| XM_005252497.3:c.1948C>G | XP_005252554.1:p.Arg650Gly | |
| XM_006717465.2:c.1846C>G | XP_006717528.1:p.Arg616Gly | |
| XM_011519547.1:c.1846C>G | XP_011517849.1:p.Arg616Gly | |
| XM_011519548.1:c.1939-2567C>G | XP_011517850.1:n.1939-2567C>G | |
| NM_001323265.1:c.1846C>G | NP_001310194.1:p.Arg616Gly | |
| NM_001323266.1:c.1471C>G | NP_001310195.1:p.Arg491Gly | |
| NM_001323267.1:c.1738C>G | NP_001310196.1:p.Arg580Gly | |
| XM_005252496.4:c.1948C>G | XP_005252553.1:p.Arg650Gly | |
| XM_005252497.4:c.1948C>G | XP_005252554.1:p.Arg650Gly | |
| XM_024448076.1:c.1846C>G | XP_024303844.1:p.Arg616Gly | |
| XM_024448077.1:c.1471C>G | XP_024303845.1:p.Arg491Gly | |
| NM_001282644.2:c.1738C>G | NP_001269573.1:p.Arg580Gly | |
| NM_001323266.2:c.1471C>G | NP_001310195.1:p.Arg491Gly | |
| NM_006257.5:c.1846C>G MANE Select | NP_006248.1:p.Arg616Gly | |
| NM_001323267.2:c.1738C>G | NP_001310196.1:p.Arg580Gly |