Linked Data
ClinVar Variation Id:
211216
ClinVar RCV Id:
RCV000194577
dbSNP Id:
rs797045634
gnomAD v4:
1-111981693-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111981693C>A , CM000663.2:g.111981693C>A | GRCh38 |
| NC_000001.10:g.112524315C>A , CM000663.1:g.112524315C>A | GRCh37 |
| NC_000001.9:g.112325838C>A | NCBI36 |
| NG_032011.2:g.12463G>T , LRG_445:g.12463G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703641.1:n.1533G>T | ||
| ENST00000703642.1:n.1339G>T | ||
| ENST00000703643.1:n.1336G>T | ||
| ENST00000302127.5:c.1034G>T MANE Select | ENSP00000306923.4:p.Gly345Val | |
| ENST00000302127.4:c.1034G>T | ENSP00000306923.3:p.Gly345Val | |
| ENST00000315987.6:c.1034G>T | ENSP00000319591.2:p.Gly345Val | |
| ENST00000369697.5:c.1034G>T | ENSP00000358711.1:p.Gly345Val | |
| NM_004980.4:c.1034G>T , LRG_445t1:c.1034G>T | NP_004971.2:p.Gly345Val | |
| NM_172198.2:c.1034G>T | NP_751948.1:p.Gly345Val | |
| XM_005270851.3:c.1034G>T | XP_005270908.1:p.Gly345Val | |
| XM_006710629.2:c.1034G>T | XP_006710692.1:p.Gly345Val | |
| XM_006710630.2:c.1034G>T | XP_006710693.1:p.Gly345Val | |
| XM_006710631.2:c.1034G>T | XP_006710694.1:p.Gly345Val | |
| XM_006710632.2:c.1034G>T | XP_006710695.1:p.Gly345Val | |
| XM_011541425.1:c.1034G>T | XP_011539727.1:p.Gly345Val | |
| XM_011541426.1:c.1034G>T | XP_011539728.1:p.Gly345Val | |
| XM_011541427.1:c.1034G>T | XP_011539729.1:p.Gly345Val | |
| XM_011541428.1:c.1034G>T | XP_011539730.1:p.Gly345Val | |
| XM_005270851.4:c.1034G>T | XP_005270908.1:p.Gly345Val | |
| XM_006710629.4:c.1034G>T | XP_006710692.1:p.Gly345Val | |
| XM_006710630.3:c.1034G>T | XP_006710693.1:p.Gly345Val | |
| XM_006710631.3:c.1034G>T | XP_006710694.1:p.Gly345Val | |
| XM_006710632.3:c.1034G>T | XP_006710695.1:p.Gly345Val | |
| XM_011541425.3:c.1034G>T | XP_011539727.1:p.Gly345Val | |
| XM_011541426.2:c.1034G>T | XP_011539728.1:p.Gly345Val | |
| XM_011541427.3:c.1034G>T | XP_011539729.1:p.Gly345Val | |
| XM_011541428.2:c.1034G>T | XP_011539730.1:p.Gly345Val | |
| XM_017001244.2:c.1034G>T | XP_016856733.1:p.Gly345Val | |
| XM_017001245.2:c.1034G>T | XP_016856734.1:p.Gly345Val | |
| NM_001378969.1:c.1034G>T MANE Select | NP_001365898.1:p.Gly345Val | |
| NM_001378970.1:c.1034G>T | NP_001365899.1:p.Gly345Val | |
| NM_004980.5:c.1034G>T | NP_004971.2:p.Gly345Val | |
| NM_172198.3:c.1034G>T | NP_751948.1:p.Gly345Val |