Linked Data
dbSNP Id:
rs753254708
ExAC:
1:173878784 G / T
gnomAD v2:
1-173878784-G-T
gnomAD v4:
1-173909646-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909646G>T , CM000663.2:g.173909646G>T | GRCh38 |
| NC_000001.10:g.173878784G>T , CM000663.1:g.173878784G>T | GRCh37 |
| NC_000001.9:g.172145407G>T | NCBI36 |
| NG_012462.1:g.12733C>A , LRG_577:g.12733C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1059C>A MANE Select | ENSP00000356671.3:p.Pro353= | |
| ENST00000367698.3:c.1059C>A | ENSP00000356671.3:p.Pro353= | |
| ENST00000617423.4:c.560-2153C>A | ENSP00000478688.1:n.560-2153C>A | |
| NM_000488.3:c.1059C>A , LRG_577t1:c.1059C>A | NP_000479.1:p.Pro353= | |
| XM_005245198.2:c.915C>A | XP_005245255.1:p.Pro305= | |
| NM_001365052.1:c.915C>A | NP_001351981.1:p.Pro305= | |
| NM_000488.4:c.1059C>A MANE Select | NP_000479.1:p.Pro353= | |
| NM_001365052.2:c.915C>A | NP_001351981.1:p.Pro305= | |
| NM_001386302.1:c.1182C>A | NP_001373231.1:p.Pro394= | |
| NM_001386303.1:c.1140C>A | NP_001373232.1:p.Pro380= | |
| NM_001386304.1:c.1038C>A | NP_001373233.1:p.Pro346= | |
| NM_001386305.1:c.1002C>A | NP_001373234.1:p.Pro334= | |
| NM_001386306.1:c.843C>A | NP_001373235.1:p.Pro281= |