Linked Data
dbSNP Id:
rs748866829
ExAC:
2:206992472 T / A
gnomAD v2:
2-206992472-T-A
gnomAD v4:
2-206127748-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206127748T>A , CM000664.2:g.206127748T>A | GRCh38 |
| NC_000002.11:g.206992472T>A , CM000664.1:g.206992472T>A | GRCh37 |
| NC_000002.10:g.206700717T>A | NCBI36 |
| NG_009248.1:g.36716A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1884+49A>T MANE Select | ENSP00000233190.5:n.1884+49A>T | |
| ENST00000233190.10:c.1884+49A>T | ENSP00000233190.5:n.1884+49A>T | |
| ENST00000423725.5:c.1713+49A>T | ENSP00000397760.1:n.1713+49A>T | |
| ENST00000432169.5:c.1551+49A>T | ENSP00000409689.1:n.1551+49A>T | |
| ENST00000440274.5:c.1776+49A>T | ENSP00000409766.1:n.1776+49A>T | |
| ENST00000449699.5:c.1884+49A>T | ENSP00000399912.1:n.1884+49A>T | |
| ENST00000455934.6:c.1926+49A>T | ENSP00000392709.2:n.1926+49A>T | |
| ENST00000457011.5:c.1536+49A>T | ENSP00000400976.1:n.1536+49A>T | |
| ENST00000498520.1:n.405A>T | ||
| NM_001199981.1:c.1776+49A>T | NP_001186910.1:n.1776+49A>T | |
| NM_001199982.1:c.1551+49A>T | NP_001186911.1:n.1551+49A>T | |
| NM_001199983.1:c.1713+49A>T | NP_001186912.1:n.1713+49A>T | |
| NM_001199984.1:c.1926+49A>T | NP_001186913.1:n.1926+49A>T | |
| NM_005006.6:c.1884+49A>T | NP_004997.4:n.1884+49A>T | |
| XM_017004188.2:c.1125+49A>T | XP_016859677.1:n.1125+49A>T | |
| NM_001199981.2:c.1776+49A>T | NP_001186910.1:n.1776+49A>T | |
| NM_001199982.2:c.1551+49A>T | NP_001186911.1:n.1551+49A>T | |
| NM_001199983.2:c.1713+49A>T | NP_001186912.1:n.1713+49A>T | |
| NM_005006.7:c.1884+49A>T MANE Select | NP_004997.4:n.1884+49A>T | |
| NM_001199984.2:c.1926+49A>T | NP_001186913.1:n.1926+49A>T |