Linked Data
ClinVar Variation Id:
2037070
ClinVar RCV Id:
RCV002882115
dbSNP Id:
rs370670661
ExAC:
X:136649923 A / T
gnomAD v2:
X-136649923-A-T
gnomAD v3:
X-137567764-A-T
gnomAD v4:
X-137567764-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567764A>T , CM000685.2:g.137567764A>T | GRCh38 |
| NC_000023.10:g.136649923A>T , CM000685.1:g.136649923A>T | GRCh37 |
| NC_000023.9:g.136477589A>T | NCBI36 |
| NG_008115.1:g.6578A>T | |
| NG_008115.2:g.6638A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.1060+13A>T MANE Select | ENSP00000287538.5:n.1060+13A>T | |
| ENST00000287538.9:c.1060+13A>T | ENSP00000287538.5:n.1060+13A>T | |
| ENST00000370606.3:c.1060+13A>T | ENSP00000359638.3:n.1060+13A>T | |
| NM_003413.3:c.1060+13A>T | NP_003404.1:n.1060+13A>T | |
| NM_001330661.1:c.1060+13A>T | NP_001317590.1:n.1060+13A>T | |
| NM_003413.4:c.1060+13A>T MANE Select | NP_003404.1:n.1060+13A>T |