Linked Data
ClinVar Variation Id:
2169839
ClinVar RCV Id:
RCV003095353
dbSNP Id:
rs375177816
ExAC:
14:100344813 C / T
gnomAD v2:
14-100344813-C-T
gnomAD v3:
14-99878476-C-T
gnomAD v4:
14-99878476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99878476C>T , CM000676.2:g.99878476C>T | GRCh38 |
| NC_000014.8:g.100344813C>T , CM000676.1:g.100344813C>T | GRCh37 |
| NC_000014.7:g.99414566C>T | NCBI36 |
| NG_052827.1:g.145778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262233.11:c.384-9C>T MANE Select | ENSP00000262233.7:n.384-9C>T | |
| ENST00000649352.1:c.459-9C>T | ENSP00000498100.1:n.459-9C>T | |
| ENST00000262233.10:c.384-9C>T | ENSP00000262233.6:n.384-9C>T | |
| ENST00000327921.13:c.348-9C>T | ENSP00000327384.9:n.348-9C>T | |
| ENST00000334192.8:c.441-9C>T | ENSP00000334314.4:n.441-9C>T | |
| ENST00000554479.5:c.345-9C>T | ENSP00000451346.1:n.345-9C>T | |
| ENST00000555096.5:c.*122-9C>T | ENSP00000451269.1:n.*122-9C>T | |
| ENST00000555145.5:c.402-9C>T | ENSP00000452160.1:n.402-9C>T | |
| ENST00000556714.5:c.291-9C>T | ENSP00000452089.1:n.291-9C>T | |
| ENST00000556758.1:n.320-9C>T | ||
| ENST00000556835.5:c.291-9C>T | ENSP00000451669.1:n.291-9C>T | |
| ENST00000557741.1:c.39-9C>T | ENSP00000452063.1:n.39-9C>T | |
| NM_001008707.1:c.441-9C>T | NP_001008707.1:n.441-9C>T | |
| NM_004434.2:c.384-9C>T | NP_004425.2:n.384-9C>T | |
| XM_005267397.1:c.384-9C>T | XP_005267454.1:n.384-9C>T | |
| XM_005267398.3:c.345-9C>T | XP_005267455.1:n.345-9C>T | |
| XM_005267399.3:c.402-9C>T | XP_005267456.2:n.402-9C>T | |
| XM_005267400.3:c.345-9C>T | XP_005267457.1:n.345-9C>T | |
| XM_011536540.1:c.402-9C>T | XP_011534842.1:n.402-9C>T | |
| XM_011536541.1:c.291-9C>T | XP_011534843.1:n.291-9C>T | |
| XM_011536542.1:c.402-9C>T | XP_011534844.1:n.402-9C>T | |
| XM_005267399.4:c.402-9C>T | XP_005267456.2:n.402-9C>T | |
| XM_005267400.4:c.345-9C>T | XP_005267457.1:n.345-9C>T | |
| XM_011536540.2:c.402-9C>T | XP_011534842.1:n.402-9C>T | |
| XM_011536542.3:c.402-9C>T | XP_011534844.1:n.402-9C>T | |
| XM_017021074.2:c.384-9C>T | XP_016876563.1:n.384-9C>T | |
| XM_024449507.1:c.-238-9C>T | XP_024305275.1:n.-238-9C>T | |
| NM_001008707.2:c.441-9C>T | NP_001008707.1:n.441-9C>T | |
| NM_001375411.1:c.345-9C>T | NP_001362340.1:n.345-9C>T | |
| NM_001375412.1:c.384-9C>T | NP_001362341.1:n.384-9C>T | |
| NM_004434.3:c.384-9C>T MANE Select | NP_004425.2:n.384-9C>T |