Linked Data
ClinVar Variation Id:
731537
ClinVar RCV Id:
RCV000906506
dbSNP Id:
rs763683640
ExAC:
1:202566002 C / T
gnomAD v2:
1-202566002-C-T
gnomAD v3:
1-202596874-C-T
gnomAD v4:
1-202596874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596874C>T , CM000663.2:g.202596874C>T | GRCh38 |
| NC_000001.10:g.202566002C>T , CM000663.1:g.202566002C>T | GRCh37 |
| NC_000001.9:g.200832625C>T | NCBI36 |
| NG_041776.1:g.118550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1143G>A MANE Select | ENSP00000356237.4:p.Thr381= | |
| ENST00000367267.5:c.1143G>A | ENSP00000356236.1:p.Thr381= | |
| ENST00000367268.4:c.1143G>A | ENSP00000356237.4:p.Thr381= | |
| NM_001136504.1:c.1143G>A | NP_001129976.1:p.Thr381= | |
| NM_177402.4:c.1143G>A | NP_796376.2:p.Thr381= | |
| XM_011509192.1:c.1152G>A | XP_011507494.1:p.Thr384= | |
| XM_011509192.2:c.1152G>A | XP_011507494.1:p.Thr384= | |
| XM_017000309.2:c.1323G>A | XP_016855798.1:p.Thr441= | |
| XM_017000310.2:c.1314G>A | XP_016855799.1:p.Thr438= | |
| XM_017000311.2:c.1152G>A | XP_016855800.1:p.Thr384= | |
| XM_017000312.1:c.1152G>A | XP_016855801.1:p.Thr384= | |
| XM_017000313.1:c.1143G>A | XP_016855802.1:p.Thr381= | |
| NM_177402.5:c.1143G>A MANE Select | NP_796376.2:p.Thr381= |