Linked Data
dbSNP Id:
rs953845742
gnomAD v2:
7-142654878-C-A
gnomAD v3:
7-142957791-C-A
gnomAD v4:
7-142957791-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957791C>A , CM000669.2:g.142957791C>A | GRCh38 |
| NC_000007.13:g.142654878C>A , CM000669.1:g.142654878C>A | GRCh37 |
| NC_000007.12:g.142365000C>A | NCBI36 |
| NG_007492.1:g.9626G>T | |
| NG_007492.2:g.9626G>T | |
| NG_007492.3:g.9626G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.672+36G>T MANE Select | ENSP00000347409.2:n.672+36G>T | |
| ENST00000355265.6:c.672+36G>T | ENSP00000347409.2:n.672+36G>T | |
| ENST00000476829.5:c.525+513G>T | ENSP00000419889.1:n.525+513G>T | |
| ENST00000479768.6:n.790+36G>T | ||
| ENST00000494148.1:n.271+36G>T | ||
| NM_000420.2:c.672+36G>T | NP_000411.1:n.672+36G>T | |
| XM_005249993.2:c.708+36G>T | XP_005250050.1:n.708+36G>T | |
| NM_000420.3:c.672+36G>T MANE Select | NP_000411.1:n.672+36G>T |