Linked Data
dbSNP Id:
rs12304921
gnomAD v2:
12-51357542-A-G
gnomAD v3:
12-50963759-A-G
gnomAD v4:
12-50963759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50963759A>G , CM000674.2:g.50963759A>G | GRCh38 |
| NC_000012.11:g.51357542A>G , CM000674.1:g.51357542A>G | GRCh37 |
| NC_000012.10:g.49643809A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695929.1:c.*534+2657A>G | ENSP00000512272.1:n.*534+2657A>G | |
| ENST00000695930.1:c.253+2657A>G (HIGD1C) | ENSP00000512273.1:n.253+2657A>G | |
| ENST00000695931.1:c.229+2657A>G (HIGD1C) MANE Select | ENSP00000512274.1:n.229+2657A>G | |
| ENST00000398455.3:c.229+2657A>G (HIGD1C) | ENSP00000381473.3:n.229+2657A>G | |
| NM_001109619.1:c.229+2657A>G (HIGD1C) | NP_001103089.1:n.229+2657A>G | |
| XM_011538648.1:c.544+2657A>G (HIGD1C) | XP_011536950.1:n.544+2657A>G | |
| XM_011538649.1:c.229+2657A>G (HIGD1C) | XP_011536951.1:n.229+2657A>G | |
| NM_001109619.2:c.229+2657A>G (HIGD1C) | NP_001103089.1:n.229+2657A>G | |
| XM_011538649.2:c.229+2657A>G (HIGD1C) | XP_011536951.1:n.229+2657A>G | |
| XM_017019783.2:c.373+2657A>G (HIGD1C) | XP_016875272.1:n.373+2657A>G | |
| XM_017019784.2:c.373+2657A>G (HIGD1C) | XP_016875273.1:n.373+2657A>G | |
| XM_017019785.1:c.253+2657A>G (HIGD1C) | XP_016875274.1:n.253+2657A>G | |
| XR_001748720.1:n.1992-9951T>C (SLC11A2) | ||
| NM_001109619.3:c.229+2657A>G (HIGD1C) | NP_001103089.1:n.229+2657A>G | |
| NM_001109619.4:c.229+2657A>G (HIGD1C) MANE Select | NP_001103089.1:n.229+2657A>G |