Linked Data
dbSNP Id:
rs757362541
ExAC:
11:68675801 A / T
gnomAD v2:
11-68675801-A-T
gnomAD v4:
11-68908333-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908333A>T , CM000673.2:g.68908333A>T | GRCh38 |
| NC_000011.9:g.68675801A>T , CM000673.1:g.68675801A>T | GRCh37 |
| NC_000011.8:g.68432377A>T | NCBI36 |
| NG_007976.1:g.9483A>T , LRG_250:g.9483A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.445A>T MANE Select | ENSP00000255078.4:p.Lys149Ter | |
| ENST00000539224.2:c.408A>T | ||
| ENST00000674583.1:c.408A>T | ||
| ENST00000674597.1:c.256A>T | ||
| ENST00000674955.1:c.445A>T | ENSP00000502463.1:p.Lys149Ter | |
| ENST00000675142.1:n.408A>T | ||
| ENST00000675469.1:c.321A>T | ||
| ENST00000675615.1:c.445A>T | ENSP00000502413.1:p.Lys149Ter | |
| ENST00000675674.1:n.408A>T | ||
| ENST00000675873.1:c.408A>T | ||
| ENST00000676173.1:n.489A>T | ||
| ENST00000676228.1:c.445A>T | ENSP00000502375.1:p.Lys149Ter | |
| ENST00000255078.7:c.445A>T | ENSP00000255078.3:p.Lys149Ter | |
| ENST00000539224.1:c.445A>T | ENSP00000440465.1:p.Lys149Ter | |
| ENST00000544541.1:c.*185A>T | ENSP00000443343.1:n.*185A>T | |
| NM_002180.2:c.445A>T , LRG_250t1:c.445A>T | NP_002171.2:p.Lys149Ter | |
| XM_005273974.2:c.-567A>T | XP_005274031.1:n.-567A>T | |
| XM_005273976.1:c.445A>T | XP_005274033.1:p.Lys149Ter | |
| XR_247198.1:n.547A>T | ||
| XR_949903.1:n.547A>T | ||
| XM_005273976.2:c.445A>T | XP_005274033.1:p.Lys149Ter | |
| XM_017017669.2:c.-469A>T | XP_016873158.1:n.-469A>T | |
| XM_017017671.2:c.445A>T | XP_016873160.1:p.Lys149Ter | |
| XR_949903.3:n.543A>T | ||
| NM_002180.3:c.445A>T MANE Select | NP_002171.2:p.Lys149Ter |