Linked Data
dbSNP Id:
rs1404267784
gnomAD v2:
1-173878921-C-T
gnomAD v3:
1-173909783-C-T
gnomAD v4:
1-173909783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909783C>T , CM000663.2:g.173909783C>T | GRCh38 |
| NC_000001.10:g.173878921C>T , CM000663.1:g.173878921C>T | GRCh37 |
| NC_000001.9:g.172145544C>T | NCBI36 |
| NG_012462.1:g.12596G>A , LRG_577:g.12596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.922G>A MANE Select | ENSP00000356671.3:p.Gly308Ser | |
| ENST00000367698.3:c.922G>A | ENSP00000356671.3:p.Gly308Ser | |
| ENST00000487183.1:n.573G>A | ||
| ENST00000617423.4:c.559+2081G>A | ENSP00000478688.1:n.559+2081G>A | |
| NM_000488.3:c.922G>A , LRG_577t1:c.922G>A | NP_000479.1:p.Gly308Ser | |
| XM_005245198.2:c.778G>A | XP_005245255.1:p.Gly260Ser | |
| NM_001365052.1:c.778G>A | NP_001351981.1:p.Gly260Ser | |
| NM_000488.4:c.922G>A MANE Select | NP_000479.1:p.Gly308Ser | |
| NM_001365052.2:c.778G>A | NP_001351981.1:p.Gly260Ser | |
| NM_001386302.1:c.1045G>A | NP_001373231.1:p.Gly349Ser | |
| NM_001386303.1:c.1003G>A | NP_001373232.1:p.Gly335Ser | |
| NM_001386304.1:c.901G>A | NP_001373233.1:p.Gly301Ser | |
| NM_001386305.1:c.865G>A | NP_001373234.1:p.Gly289Ser | |
| NM_001386306.1:c.706G>A | NP_001373235.1:p.Gly236Ser |