Linked Data
dbSNP Id:
rs538002873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459876T>A , CM000675.2:g.48459876T>A | GRCh38 |
| NC_000013.10:g.49034012T>A , CM000675.1:g.49034012T>A | GRCh37 |
| NC_000013.9:g.47932013T>A | NCBI36 |
| NG_009009.1:g.161130T>A , LRG_517:g.161130T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2106+43T>A MANE Select | ENSP00000267163.4:n.2106+43T>A | |
| ENST00000643064.1:c.194+78433T>A | ||
| ENST00000650461.1:c.2106+43T>A | ENSP00000497193.1:n.2106+43T>A | |
| ENST00000267163.4:c.2106+43T>A | ENSP00000267163.4:n.2106+43T>A | |
| NM_000321.2:c.2106+43T>A , LRG_517t1:c.2106+43T>A | NP_000312.2:n.2106+43T>A | |
| XM_011535171.1:c.1845+43T>A | XP_011533473.1:n.1845+43T>A | |
| XM_011535171.2:c.1845+43T>A | XP_011533473.1:n.1845+43T>A | |
| NM_000321.3:c.2106+43T>A MANE Select | NP_000312.2:n.2106+43T>A |