Linked Data
dbSNP Id:
rs12914008
ExAC:
15:78923505 G / A
gnomAD v2:
15-78923505-G-A
gnomAD v3:
15-78631163-G-A
gnomAD v4:
15-78631163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78631163G>A , CM000677.2:g.78631163G>A | GRCh38 |
| NC_000015.9:g.78923505G>A , CM000677.1:g.78923505G>A | GRCh37 |
| NC_000015.8:g.76710560G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261751.8:c.272C>T MANE Select | ENSP00000261751.3:p.Thr91Ile | |
| ENST00000261751.7:c.272C>T | ENSP00000261751.3:p.Thr91Ile | |
| ENST00000412074.6:c.272C>T | ENSP00000416386.2:p.Thr91Ile | |
| ENST00000559849.5:c.*180C>T | ENSP00000457404.1:n.*180C>T | |
| ENST00000560511.5:n.626C>T | ||
| NM_000750.3:c.272C>T | NP_000741.1:p.Thr91Ile | |
| NM_001256567.1:c.272C>T | NP_001243496.1:p.Thr91Ile | |
| XM_011521181.1:c.455C>T | XP_011519483.1:p.Thr152Ile | |
| XM_011521182.1:c.455C>T | XP_011519484.1:p.Thr152Ile | |
| XM_011521183.1:c.455C>T | XP_011519485.1:p.Thr152Ile | |
| XM_011521184.1:c.455C>T | XP_011519486.1:p.Thr152Ile | |
| XM_011521185.1:c.455C>T | XP_011519487.1:p.Thr152Ile | |
| XM_011521186.1:c.263C>T | XP_011519488.1:p.Thr88Ile | |
| XM_011521187.1:c.263C>T | XP_011519489.1:p.Thr88Ile | |
| XM_011521188.1:c.182C>T | XP_011519490.1:p.Thr61Ile | |
| XM_011521189.1:c.107C>T | XP_011519491.1:p.Thr36Ile | |
| XM_011521190.1:c.50C>T | XP_011519492.1:p.Thr17Ile | |
| XM_011521191.1:c.50C>T | XP_011519493.1:p.Thr17Ile | |
| XM_011521192.1:c.-423C>T | XP_011519494.1:n.-423C>T | |
| XM_011521193.1:c.455C>T | XP_011519495.1:p.Thr152Ile | |
| NM_000750.4:c.272C>T | NP_000741.1:p.Thr91Ile | |
| NM_001256567.2:c.272C>T | NP_001243496.1:p.Thr91Ile | |
| XM_011521186.2:c.263C>T | XP_011519488.1:p.Thr88Ile | |
| XM_011521187.2:c.263C>T | XP_011519489.1:p.Thr88Ile | |
| XM_011521190.2:c.50C>T | XP_011519492.1:p.Thr17Ile | |
| XM_011521191.2:c.50C>T | XP_011519493.1:p.Thr17Ile | |
| XM_011521192.2:c.-423C>T | XP_011519494.1:n.-423C>T | |
| XM_017021885.1:c.182C>T | XP_016877374.1:p.Thr61Ile | |
| XM_017021886.1:c.182C>T | XP_016877375.1:p.Thr61Ile | |
| XM_017021887.1:c.272C>T | XP_016877376.1:p.Thr91Ile | |
| XM_017021888.1:c.272C>T | XP_016877377.1:p.Thr91Ile | |
| XM_017021889.2:c.272C>T | XP_016877378.1:p.Thr91Ile | |
| NM_000750.5:c.272C>T MANE Select | NP_000741.1:p.Thr91Ile | |
| NM_001256567.3:c.272C>T | NP_001243496.1:p.Thr91Ile |