Linked Data
dbSNP Id:
rs587707757
gnomAD v2:
7-75211320-G-C
gnomAD v3:
7-75582004-G-C
gnomAD v4:
7-75582004-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582004G>C , CM000669.2:g.75582004G>C | GRCh38 |
| NC_000007.13:g.75211320G>C , CM000669.1:g.75211320G>C | GRCh37 |
| NC_000007.12:g.75049256G>C | NCBI36 |
| NG_023251.2:g.161958C>G | |
| NG_023251.3:g.161958C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.542+71C>G MANE Select | ENSP00000336747.6:n.542+71C>G | |
| ENST00000336926.10:c.542+71C>G | ENSP00000336747.6:n.542+71C>G | |
| ENST00000434438.6:c.542+71C>G | ENSP00000410300.2:n.542+71C>G | |
| ENST00000616821.4:c.455+71C>G | ENSP00000484528.1:n.455+71C>G | |
| NM_001243198.2:c.542+71C>G | NP_001230127.1:n.542+71C>G | |
| NM_005338.6:c.542+71C>G | NP_005329.3:n.542+71C>G | |
| XM_005250304.2:c.455+71C>G | XP_005250361.1:n.455+71C>G | |
| XM_005250305.2:c.440+71C>G | XP_005250362.1:n.440+71C>G | |
| XM_011516116.1:c.542+71C>G | XP_011514418.1:n.542+71C>G | |
| XM_011516116.2:c.542+71C>G | XP_011514418.1:n.542+71C>G | |
| XM_017012099.1:c.500+71C>G | XP_016867588.1:n.500+71C>G | |
| NM_005338.7:c.542+71C>G MANE Select | NP_005329.3:n.542+71C>G | |
| NM_001243198.3:c.542+71C>G | NP_001230127.1:n.542+71C>G | |
| NM_001382444.1:c.440+71C>G | NP_001369373.1:n.440+71C>G | |
| NM_001382445.1:c.455+71C>G | NP_001369374.1:n.455+71C>G |