Linked Data
ClinVar Variation Id:
64359
ClinVar RCV Id:
RCV000054552
dbSNP Id:
rs397514258
PubMed:
PMID:23793029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98736625T>G , CM000671.2:g.98736625T>G | GRCh38 |
| NC_000009.11:g.101498907T>G , CM000671.1:g.101498907T>G | GRCh37 |
| NC_000009.10:g.100538728T>G | NCBI36 |
| NG_042237.1:g.64918A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.2512-2A>C MANE Select | ENSP00000297837.6:n.2512-2A>C | |
| ENST00000353234.4:c.2512-2A>C | ENSP00000297837.6:n.2512-2A>C | |
| ENST00000375019.6:c.1609-2A>C | ENSP00000364159.2:n.1609-2A>C | |
| ENST00000444472.5:c.920-2A>C | ||
| ENST00000634393.1:n.1647-2A>C | ||
| NM_173551.3:c.2512-2A>C | NP_775822.3:n.2512-2A>C | |
| NM_173551.4:c.2512-2A>C | NP_775822.3:n.2512-2A>C | |
| XM_005251793.3:c.2515-2A>C | XP_005251850.1:n.2515-2A>C | |
| XM_005251794.3:c.2512-2A>C | XP_005251851.1:n.2512-2A>C | |
| XM_006716998.2:c.2515-2A>C | XP_006717061.1:n.2515-2A>C | |
| XM_006716999.2:c.2341-2A>C | XP_006717062.1:n.2341-2A>C | |
| XM_011518357.1:c.1525-2A>C | XP_011516659.1:n.1525-2A>C | |
| XR_242576.3:n.2550-2A>C | ||
| XR_428520.2:n.2554-2A>C | ||
| XR_929736.1:n.2554-2A>C | ||
| XR_929737.1:n.1652-2A>C | ||
| XM_005251793.4:c.2515-2A>C | XP_005251850.1:n.2515-2A>C | |
| XM_005251794.4:c.2512-2A>C | XP_005251851.1:n.2512-2A>C | |
| XM_006716998.3:c.2515-2A>C | XP_006717061.1:n.2515-2A>C | |
| XM_006716999.3:c.2341-2A>C | XP_006717062.1:n.2341-2A>C | |
| XM_017014445.1:c.2512-2A>C | XP_016869934.1:n.2512-2A>C | |
| XM_017014447.1:c.1264-2A>C | XP_016869936.1:n.1264-2A>C | |
| XM_024447445.1:c.2233-2A>C | XP_024303213.1:n.2233-2A>C | |
| XM_024447447.1:c.1930-2A>C | XP_024303215.1:n.1930-2A>C | |
| XR_001746230.1:n.1617-2A>C | ||
| XR_428520.3:n.2553-2A>C | ||
| XR_929736.2:n.2553-2A>C | ||
| NM_173551.5:c.2512-2A>C MANE Select | NP_775822.3:n.2512-2A>C |