Linked Data
dbSNP Id:
rs749746495
ExAC:
19:18900033 G / T
gnomAD v2:
19-18900033-G-T
gnomAD v4:
19-18789224-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789224G>T , CM000681.2:g.18789224G>T | GRCh38 |
| NC_000019.9:g.18900033G>T , CM000681.1:g.18900033G>T | GRCh37 |
| NC_000019.8:g.18761033G>T | NCBI36 |
| NG_007070.1:g.7082C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.464C>A MANE Select | ENSP00000222271.2:p.Pro155Gln | |
| ENST00000222271.6:c.464C>A | ENSP00000222271.2:p.Pro155Gln | |
| ENST00000425807.1:c.391-332C>A | ENSP00000403792.1:n.391-332C>A | |
| ENST00000542601.6:c.365C>A | ENSP00000439156.2:p.Pro122Gln | |
| NM_000095.2:c.464C>A | NP_000086.2:p.Pro155Gln | |
| NM_000095.3:c.464C>A MANE Select | NP_000086.2:p.Pro155Gln |