Linked Data
ClinVar Variation Id:
7307
ClinVar RCV Id:
RCV000007730
dbSNP Id:
rs121909083
ExAC:
9:94487272 G / A
gnomAD v2:
9-94487272-G-A
PubMed:
PMID:10932186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724990G>A , CM000671.2:g.91724990G>A | GRCh38 |
| NC_000009.11:g.94487272G>A , CM000671.1:g.94487272G>A | GRCh37 |
| NC_000009.10:g.93527093G>A | NCBI36 |
| NG_008089.1:g.230173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1504C>T MANE Select | ENSP00000364860.3:p.Gln502Ter | |
| ENST00000375708.3:c.1504C>T | ENSP00000364860.3:p.Gln502Ter | |
| ENST00000375715.5:c.1084C>T | ENSP00000364867.1:p.Gln362Ter | |
| ENST00000550066.5:n.1972C>T | ||
| NM_004560.3:c.1504C>T | NP_004551.2:p.Gln502Ter | |
| XM_005252008.3:c.1084C>T | XP_005252065.1:p.Gln362Ter | |
| XM_005252009.3:c.301C>T | XP_005252066.1:p.Gln101Ter | |
| XM_006717121.2:c.1084C>T | XP_006717184.1:p.Gln362Ter | |
| XM_011518721.1:c.1084C>T | XP_011517023.1:p.Gln362Ter | |
| XM_005252008.4:c.1084C>T | XP_005252065.1:p.Gln362Ter | |
| XM_006717121.3:c.1084C>T | XP_006717184.1:p.Gln362Ter | |
| XM_017014762.1:c.1495C>T | XP_016870251.1:p.Gln499Ter | |
| XM_017014763.1:c.1084C>T | XP_016870252.1:p.Gln362Ter | |
| NM_004560.4:c.1504C>T MANE Select | NP_004551.2:p.Gln502Ter |