Linked Data
ClinVar Variation Id:
1255071
ClinVar RCV Id:
RCV001653180
dbSNP Id:
rs60617711
gnomAD v2:
9-94519956-C-T
gnomAD v3:
9-91757674-C-T
gnomAD v4:
9-91757674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91757674C>T , CM000671.2:g.91757674C>T | GRCh38 |
| NC_000009.11:g.94519956C>T , CM000671.1:g.94519956C>T | GRCh37 |
| NC_000009.10:g.93559777C>T | NCBI36 |
| NG_008089.1:g.197489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.176-115G>A MANE Select | ENSP00000364860.3:n.176-115G>A | |
| ENST00000375708.3:c.176-115G>A | ENSP00000364860.3:n.176-115G>A | |
| ENST00000375715.5:c.-245-115G>A | ENSP00000364867.1:n.-245-115G>A | |
| ENST00000495386.5:n.439-115G>A | ||
| ENST00000546883.1:n.378-115G>A | ||
| ENST00000548585.2:n.42-115G>A | ||
| ENST00000550066.5:n.644-115G>A | ||
| NM_004560.3:c.176-115G>A | NP_004551.2:n.176-115G>A | |
| XM_005252008.3:c.-245-115G>A | XP_005252065.1:n.-245-115G>A | |
| XM_006717121.2:c.-245-115G>A | XP_006717184.1:n.-245-115G>A | |
| XM_011518721.1:c.-245-115G>A | XP_011517023.1:n.-245-115G>A | |
| NM_001318204.1:c.176-115G>A | NP_001305133.1:n.176-115G>A | |
| XM_005252008.4:c.-245-115G>A | XP_005252065.1:n.-245-115G>A | |
| XM_006717121.3:c.-245-115G>A | XP_006717184.1:n.-245-115G>A | |
| XM_017014762.1:c.167-115G>A | XP_016870251.1:n.167-115G>A | |
| XM_017014763.1:c.-245-115G>A | XP_016870252.1:n.-245-115G>A | |
| XR_001746315.1:n.419-115G>A | ||
| NM_004560.4:c.176-115G>A MANE Select | NP_004551.2:n.176-115G>A | |
| NM_001318204.2:c.176-115G>A | NP_001305133.1:n.176-115G>A |