Linked Data
ClinVar Variation Id:
367613
dbSNP Id:
rs182633348
gnomAD v2:
9-98079954-G-A
gnomAD v3:
9-95317672-G-A
gnomAD v4:
9-95317672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95317672G>A , CM000671.2:g.95317672G>A | GRCh38 |
| NC_000009.11:g.98079954G>A , CM000671.1:g.98079954G>A | GRCh37 |
| NC_000009.10:g.97119775G>A | NCBI36 |
| NG_011707.1:g.5038C>T , LRG_497:g.5038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.22C>T | ||
| ENST00000696262.1:c.-225C>T | ENSP00000512510.1:n.-225C>T | |
| ENST00000696263.1:n.31C>T | ||
| ENST00000289081.8:c.-225C>T MANE Select | ENSP00000289081.3:n.-225C>T | |
| ENST00000636777.1:n.20-68342C>T | ||
| ENST00000647778.1:c.-339C>T | ENSP00000498125.1:n.-339C>T | |
| ENST00000649611.1:c.-384C>T | ENSP00000497986.1:n.-384C>T | |
| ENST00000289081.7:c.-225C>T | ENSP00000289081.3:n.-225C>T | |
| ENST00000474949.1:n.38C>T | ||
| ENST00000490972.6:c.-225C>T | ENSP00000479931.1:n.-225C>T | |
| NM_000136.2:c.-225C>T , LRG_497t1:c.-225C>T | NP_000127.2:n.-225C>T | |
| NM_001243744.1:c.-225C>T | NP_001230673.1:n.-225C>T | |
| XM_006717001.1:c.-225C>T | XP_006717064.1:n.-225C>T | |
| XM_006717002.2:c.-225C>T | XP_006717065.1:n.-225C>T | |
| XM_006717004.2:c.-225C>T | XP_006717067.1:n.-225C>T | |
| XM_011518366.1:c.-225C>T | XP_011516668.1:n.-225C>T | |
| XM_006717001.3:c.-225C>T | XP_006717064.1:n.-225C>T | |
| XM_006717002.4:c.-225C>T | XP_006717065.1:n.-225C>T | |
| XM_006717004.4:c.-225C>T | XP_006717067.1:n.-225C>T | |
| XM_011518366.3:c.-225C>T | XP_011516668.1:n.-225C>T | |
| XM_017014452.2:c.-826C>T | XP_016869941.1:n.-826C>T | |
| XM_017014454.1:c.-826C>T | XP_016869943.1:n.-826C>T | |
| NM_000136.3:c.-225C>T MANE Select | NP_000127.2:n.-225C>T | |
| NM_001243744.2:c.-225C>T | NP_001230673.1:n.-225C>T |