Linked Data
dbSNP Id:
rs769733229
ExAC:
1:202565926 G / T
gnomAD v2:
1-202565926-G-T
gnomAD v4:
1-202596798-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596798G>T , CM000663.2:g.202596798G>T | GRCh38 |
| NC_000001.10:g.202565926G>T , CM000663.1:g.202565926G>T | GRCh37 |
| NC_000001.9:g.200832549G>T | NCBI36 |
| NG_041776.1:g.118626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1219C>A MANE Select | ENSP00000356237.4:p.Pro407Thr | |
| ENST00000367267.5:c.1219C>A | ENSP00000356236.1:p.Pro407Thr | |
| ENST00000367268.4:c.1219C>A | ENSP00000356237.4:p.Pro407Thr | |
| NM_001136504.1:c.1219C>A | NP_001129976.1:p.Pro407Thr | |
| NM_177402.4:c.1219C>A | NP_796376.2:p.Pro407Thr | |
| XM_011509192.1:c.1228C>A | XP_011507494.1:p.Pro410Thr | |
| XM_011509192.2:c.1228C>A | XP_011507494.1:p.Pro410Thr | |
| XM_017000309.2:c.1399C>A | XP_016855798.1:p.Pro467Thr | |
| XM_017000310.2:c.1390C>A | XP_016855799.1:p.Pro464Thr | |
| XM_017000311.2:c.1228C>A | XP_016855800.1:p.Pro410Thr | |
| XM_017000312.1:c.1228C>A | XP_016855801.1:p.Pro410Thr | |
| XM_017000313.1:c.1219C>A | XP_016855802.1:p.Pro407Thr | |
| NM_177402.5:c.1219C>A MANE Select | NP_796376.2:p.Pro407Thr |