Linked Data
dbSNP Id:
rs757123577
ExAC:
1:17355230 G / A
gnomAD v2:
1-17355230-G-A
gnomAD v4:
1-17028735-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028735G>A , CM000663.2:g.17028735G>A | GRCh38 |
| NC_000001.10:g.17355230G>A , CM000663.1:g.17355230G>A | GRCh37 |
| NC_000001.9:g.17227817G>A | NCBI36 |
| NG_012340.1:g.30436C>T , LRG_316:g.30436C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.117C>T | ENSP00000481376.2:p.Gly39= | |
| ENST00000491274.6:c.246C>T | ENSP00000480482.2:p.Gly82= | |
| ENST00000375499.8:c.288C>T MANE Select | ENSP00000364649.3:p.Gly96= | |
| ENST00000375499.7:c.288C>T | ENSP00000364649.3:p.Gly96= | |
| ENST00000463045.2:c.117C>T | ENSP00000481376.1:p.Gly39= | |
| ENST00000475506.1:n.205C>T | ||
| ENST00000485515.5:n.276C>T | ||
| ENST00000491274.5:c.246C>T | ENSP00000480482.1:p.Gly82= | |
| NM_003000.2:c.288C>T , LRG_316t1:c.288C>T | NP_002991.2:p.Gly96= | |
| NM_003000.3:c.288C>T MANE Select | NP_002991.2:p.Gly96= |