Linked Data
ClinVar Variation Id:
258170
dbSNP Id:
rs10991898
ExAC:
9:94118258 C / T
gnomAD v2:
9-94118258-C-T
gnomAD v3:
9-91355976-C-T
gnomAD v4:
9-91355976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91355976C>T , CM000671.2:g.91355976C>T | GRCh38 |
| NC_000009.11:g.94118258C>T , CM000671.1:g.94118258C>T | GRCh37 |
| NC_000009.10:g.93158079C>T | NCBI36 |
| NG_008017.1:g.10949G>A , LRG_449:g.10949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.331-6G>A MANE Select | ENSP00000364883.5:n.331-6G>A | |
| ENST00000303617.5:c.331-6G>A | ENSP00000307334.5:n.331-6G>A | |
| ENST00000375731.8:c.331-6G>A | ENSP00000364883.4:n.331-6G>A | |
| ENST00000475023.1:n.35-6G>A | ||
| ENST00000478465.5:n.491-6G>A | ||
| NM_001306190.1:c.331-6G>A | NP_001293119.1:n.331-6G>A | |
| NM_001698.2:c.331-6G>A , LRG_449t1:c.331-6G>A | NP_001689.1:n.331-6G>A | |
| XM_005252066.2:c.361-6G>A | XP_005252123.1:n.361-6G>A | |
| XM_005252067.3:c.361-6G>A | XP_005252124.1:n.361-6G>A | |
| XM_005252069.3:c.361-6G>A | XP_005252126.1:n.361-6G>A | |
| XM_005252072.1:c.331-6G>A | XP_005252129.1:n.331-6G>A | |
| XM_006717150.2:c.361-6G>A | XP_006717213.1:n.361-6G>A | |
| XM_011518800.1:c.361-6G>A | XP_011517102.1:n.361-6G>A | |
| XM_011518802.1:c.4-6G>A | XP_011517104.1:n.4-6G>A | |
| XM_011518803.1:c.361-6G>A | XP_011517105.1:n.361-6G>A | |
| XM_011518804.1:c.331-6G>A | XP_011517106.1:n.331-6G>A | |
| XR_929814.1:n.411-6G>A | ||
| NM_001351431.1:c.4-6G>A | NP_001338360.1:n.4-6G>A | |
| NM_001351432.1:c.4-6G>A | NP_001338361.1:n.4-6G>A | |
| NM_001351433.1:c.4-6G>A | NP_001338362.1:n.4-6G>A | |
| XM_005252066.3:c.361-6G>A | XP_005252123.1:n.361-6G>A | |
| XM_005252067.4:c.361-6G>A | XP_005252124.1:n.361-6G>A | |
| XM_005252069.4:c.361-6G>A | XP_005252126.1:n.361-6G>A | |
| XM_005252072.2:c.331-6G>A | XP_005252129.1:n.331-6G>A | |
| XM_006717150.3:c.361-6G>A | XP_006717213.1:n.361-6G>A | |
| XM_011518800.3:c.361-6G>A | XP_011517102.1:n.361-6G>A | |
| XM_011518803.2:c.361-6G>A | XP_011517105.1:n.361-6G>A | |
| XM_017014849.1:c.331-6G>A | XP_016870338.1:n.331-6G>A | |
| XR_001746328.2:n.414-6G>A | ||
| XR_001746329.2:n.366-6G>A | ||
| NM_001698.3:c.331-6G>A MANE Select | NP_001689.1:n.331-6G>A | |
| NM_001306190.2:c.331-6G>A | NP_001293119.1:n.331-6G>A | |
| NM_001351431.2:c.4-6G>A | NP_001338360.1:n.4-6G>A | |
| NM_001351432.2:c.4-6G>A | NP_001338361.1:n.4-6G>A | |
| NM_001351433.2:c.4-6G>A | NP_001338362.1:n.4-6G>A |