Linked Data
dbSNP Id:
rs542517910
ExAC:
11:65635715 G / A
gnomAD v2:
11-65635715-G-A
gnomAD v3:
11-65868244-G-A
gnomAD v4:
11-65868244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868244G>A , CM000673.2:g.65868244G>A | GRCh38 |
| NC_000011.9:g.65635715G>A , CM000673.1:g.65635715G>A | GRCh37 |
| NC_000011.8:g.65392291G>A | NCBI36 |
| NG_012304.2:g.9691C>T | |
| NG_053116.1:g.13183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.974+51C>T MANE Select | ENSP00000309953.6:n.974+51C>T | |
| ENST00000307998.10:c.974+51C>T | ENSP00000309953.6:n.974+51C>T | |
| ENST00000525392.1:n.135+51C>T | ||
| ENST00000526628.5:n.1540+51C>T | ||
| ENST00000528176.5:c.974+51C>T | ENSP00000434151.1:n.974+51C>T | |
| ENST00000528409.1:n.207+62C>T | ||
| ENST00000530806.5:c.-25+51C>T | ENSP00000436526.1:n.-25+51C>T | |
| ENST00000531005.5:n.1968+51C>T | ||
| ENST00000531645.5:c.122+51C>T | ENSP00000436521.1:n.122+51C>T | |
| ENST00000531972.5:c.974+51C>T | ENSP00000435295.1:n.974+51C>T | |
| ENST00000532084.5:n.400+51C>T | ||
| NM_016938.4:c.974+51C>T | NP_058634.4:n.974+51C>T | |
| NR_037718.1:n.1233+51C>T | ||
| NM_016938.5:c.974+51C>T MANE Select | NP_058634.4:n.974+51C>T | |
| NR_037718.2:n.1099+51C>T |