Linked Data
ClinVar Variation Id:
11221
ClinVar RCV Id:
RCV000011972
dbSNP Id:
rs128626234
gnomAD v4:
X-32844794-G-A
PubMed:
PMID:7951253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32844794G>A , CM000685.2:g.32844794G>A | GRCh38 |
| NC_000023.10:g.32862911G>A , CM000685.1:g.32862911G>A | GRCh37 |
| NC_000023.9:g.32772832G>A | NCBI36 |
| NG_012232.1:g.499816C>T , LRG_199:g.499816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.-117C>T | ENSP00000508133.1:n.-117C>T | |
| ENST00000682437.1:n.577C>T | ||
| ENST00000682584.1:n.577C>T | ||
| ENST00000682870.1:n.438C>T | ||
| ENST00000682899.1:n.460C>T | ||
| ENST00000682924.1:c.253C>T | ENSP00000508187.1:p.Gln85Ter | |
| ENST00000683309.1:n.437C>T | ||
| ENST00000683658.1:n.598C>T | ||
| ENST00000683985.1:n.460C>T | ||
| ENST00000684056.1:n.437C>T | ||
| ENST00000684165.1:n.460C>T | ||
| ENST00000684237.1:c.253C>T | ENSP00000507277.1:p.Gln85Ter | |
| ENST00000684292.1:n.460C>T | ||
| ENST00000684357.1:n.437C>T | ||
| ENST00000684660.1:n.438C>T | ||
| ENST00000288447.9:c.229C>T | ENSP00000288447.4:p.Gln77Ter | |
| ENST00000357033.9:c.253C>T MANE Select | ENSP00000354923.3:p.Gln85Ter | |
| ENST00000288447.8:c.229C>T | ENSP00000288447.4:p.Gln77Ter | |
| ENST00000357033.8:c.253C>T | ENSP00000354923.3:p.Gln85Ter | |
| ENST00000378677.6:c.241C>T | ENSP00000367948.2:p.Gln81Ter | |
| ENST00000420596.5:c.93+175345C>T | ENSP00000399897.1:n.93+175345C>T | |
| ENST00000447523.1:c.142C>T | ENSP00000395904.1:p.Gln48Ter | |
| ENST00000448370.5:c.93+175345C>T | ENSP00000388559.1:n.93+175345C>T | |
| ENST00000488902.5:n.335+175345C>T | ||
| ENST00000619831.4:c.241C>T | ENSP00000479270.1:p.Gln81Ter | |
| ENST00000620040.4:c.253C>T | ENSP00000478150.1:p.Gln85Ter | |
| NM_000109.3:c.229C>T | NP_000100.2:p.Gln77Ter | |
| NM_004006.2:c.253C>T , LRG_199t1:c.253C>T | NP_003997.1:p.Gln85Ter | |
| NM_004009.3:c.241C>T | NP_004000.1:p.Gln81Ter | |
| NM_004010.3:c.-117C>T | NP_004001.1:n.-117C>T | |
| XM_006724468.2:c.253C>T | XP_006724531.1:p.Gln85Ter | |
| XM_006724469.2:c.229C>T | XP_006724532.1:p.Gln77Ter | |
| XM_006724470.2:c.253C>T | XP_006724533.1:p.Gln85Ter | |
| XM_006724471.2:c.253C>T | XP_006724534.1:p.Gln85Ter | |
| XM_006724472.2:c.253C>T | XP_006724535.1:p.Gln85Ter | |
| XM_006724473.2:c.253C>T | XP_006724536.1:p.Gln85Ter | |
| XM_006724474.2:c.253C>T | XP_006724537.1:p.Gln85Ter | |
| XM_006724475.2:c.253C>T | XP_006724538.1:p.Gln85Ter | |
| XM_011545467.1:c.253C>T | XP_011543769.1:p.Gln85Ter | |
| XM_011545468.1:c.253C>T | XP_011543770.1:p.Gln85Ter | |
| XM_011545469.1:c.253C>T | XP_011543771.1:p.Gln85Ter | |
| XM_006724469.3:c.229C>T | XP_006724532.1:p.Gln77Ter | |
| XM_006724470.3:c.253C>T | XP_006724533.1:p.Gln85Ter | |
| XM_006724474.3:c.253C>T | XP_006724537.1:p.Gln85Ter | |
| XM_011545468.2:c.253C>T | XP_011543770.1:p.Gln85Ter | |
| XM_017029328.1:c.253C>T | XP_016884817.1:p.Gln85Ter | |
| XM_017029329.1:c.253C>T | XP_016884818.1:p.Gln85Ter | |
| XM_017029330.2:c.253C>T | XP_016884819.1:p.Gln85Ter | |
| NM_000109.4:c.229C>T | NP_000100.3:p.Gln77Ter | |
| NM_004006.3:c.253C>T MANE Select | NP_003997.2:p.Gln85Ter |