Linked Data
ClinVar Variation Id:
536696
ClinVar RCV Id:
RCV000645304
dbSNP Id:
rs1241478218
gnomAD v2:
15-38614436-T-C
gnomAD v4:
15-38322235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38322235T>C , CM000677.2:g.38322235T>C | GRCh38 |
| NC_000015.9:g.38614436T>C , CM000677.1:g.38614436T>C | GRCh37 |
| NC_000015.8:g.36401728T>C | NCBI36 |
| NG_008980.1:g.74385T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.208-6T>C MANE Select | ENSP00000299084.4:n.208-6T>C | |
| ENST00000299084.8:c.208-6T>C | ENSP00000299084.4:n.208-6T>C | |
| ENST00000561205.1:n.546-6T>C | ||
| ENST00000561317.1:c.145-6T>C | ENSP00000453680.1:n.145-6T>C | |
| NM_152594.2:c.208-6T>C | NP_689807.1:n.208-6T>C | |
| XM_005254202.2:c.244-6T>C | XP_005254259.1:n.244-6T>C | |
| XM_005254203.3:c.-15-6T>C | XP_005254260.1:n.-15-6T>C | |
| XM_011521288.1:c.145-6T>C | XP_011519590.1:n.145-6T>C | |
| XM_011521289.1:c.145-6T>C | XP_011519591.1:n.145-6T>C | |
| XM_011521290.1:c.145-6T>C | XP_011519592.1:n.145-6T>C | |
| XM_005254202.3:c.244-6T>C | XP_005254259.1:n.244-6T>C | |
| XM_011521289.3:c.145-6T>C | XP_011519591.1:n.145-6T>C | |
| NM_152594.3:c.208-6T>C MANE Select | NP_689807.1:n.208-6T>C |