Linked Data
dbSNP Id:
rs369661341
ExAC:
6:42937422 G / T
gnomAD v2:
6-42937422-G-T
gnomAD v4:
6-42969684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969684G>T , CM000668.2:g.42969684G>T | GRCh38 |
| NC_000006.11:g.42937422G>T , CM000668.1:g.42937422G>T | GRCh37 |
| NC_000006.10:g.43045400G>T | NCBI36 |
| NG_008370.1:g.14560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1351C>A MANE Select | ENSP00000303511.8:p.Pro451Thr | |
| ENST00000244546.4:c.1351C>A | ENSP00000244546.4:p.Pro451Thr | |
| ENST00000304611.12:c.1351C>A | ENSP00000303511.8:p.Pro451Thr | |
| NM_000287.3:c.1351C>A | NP_000278.3:p.Pro451Thr | |
| NM_001316313.1:c.1087C>A | NP_001303242.1:p.Pro363Thr | |
| NR_133009.1:n.1444C>A | ||
| XM_011514661.1:c.1267C>A | XP_011512963.1:p.Pro423Thr | |
| XR_926246.1:n.1444C>A | ||
| XM_011514661.2:c.1267C>A | XP_011512963.1:p.Pro423Thr | |
| XR_001743466.2:n.2425C>A | ||
| NM_000287.4:c.1351C>A MANE Select | NP_000278.3:p.Pro451Thr | |
| NM_001316313.2:c.1087C>A | NP_001303242.1:p.Pro363Thr | |
| NR_133009.2:n.1382C>A |