Linked Data
dbSNP Id:
rs1454291734
gnomAD v2:
17-73520348-A-G
gnomAD v3:
17-75524267-A-G
gnomAD v4:
17-75524267-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524267A>G , CM000679.2:g.75524267A>G | GRCh38 |
| NC_000017.10:g.73520348A>G , CM000679.1:g.73520348A>G | GRCh37 |
| NC_000017.9:g.71031943A>G | NCBI36 |
| NG_013041.1:g.12740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1436A>G MANE Select | ENSP00000327487.6:p.Asp479Gly | |
| ENST00000434205.8:c.1133A>G | ENSP00000406559.4:p.Asp378Gly | |
| ENST00000545228.3:c.1624A>G | ENSP00000438169.3:p.Met542Val | |
| ENST00000577197.2:n.634A>G | ||
| ENST00000579449.2:n.2176A>G | ||
| ENST00000580013.6:n.2580A>G | ||
| ENST00000679370.1:n.2958A>G | ||
| ENST00000679429.1:c.*894A>G | ENSP00000505403.1:n.*894A>G | |
| ENST00000679443.1:n.1505A>G | ||
| ENST00000679782.1:c.*135A>G | ENSP00000505995.1:n.*135A>G | |
| ENST00000679919.1:n.1707A>G | ||
| ENST00000679928.1:c.*1988A>G | ENSP00000506071.1:n.*1988A>G | |
| ENST00000680528.1:n.2402A>G | ||
| ENST00000680999.1:c.1649A>G | ENSP00000504984.1:p.Asp550Gly | |
| ENST00000681282.1:c.*1623A>G | ENSP00000506339.1:n.*1623A>G | |
| ENST00000333213.10:c.1436A>G | ENSP00000327487.6:p.Asp479Gly | |
| ENST00000545228.2:c.713A>G | ||
| ENST00000577197.1:n.184A>G | ||
| ENST00000579449.1:n.633A>G | ||
| NM_207346.2:c.1436A>G | NP_997229.2:p.Asp479Gly | |
| XM_005257229.2:c.1624A>G | XP_005257286.1:p.Met542Val | |
| XM_006721821.2:c.1321A>G | XP_006721884.1:p.Met441Val | |
| XM_011524616.1:c.1507A>G | XP_011522918.1:p.Met503Val | |
| XM_011524617.1:c.*18A>G | XP_011522919.1:n.*18A>G | |
| XM_011524618.1:c.1319A>G | XP_011522920.1:p.Asp440Gly | |
| XR_243646.2:n.1668A>G | ||
| XM_005257229.4:c.1624A>G | XP_005257286.1:p.Met542Val | |
| XR_001753015.1:n.87+44T>C | ||
| XR_001753016.1:n.88+44T>C | ||
| XR_243646.4:n.1674A>G | ||
| NM_207346.3:c.1436A>G MANE Select | NP_997229.2:p.Asp479Gly |