Linked Data
dbSNP Id:
rs1455102465
gnomAD v2:
3-135980888-G-C
gnomAD v3:
3-136262046-G-C
gnomAD v4:
3-136262046-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262046G>C , CM000665.2:g.136262046G>C | GRCh38 |
| NC_000003.11:g.135980888G>C , CM000665.1:g.135980888G>C | GRCh37 |
| NC_000003.10:g.137463578G>C | NCBI36 |
| NG_008939.1:g.16722G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.524G>C MANE Select | ENSP00000251654.4:p.Gly175Ala | |
| ENST00000251654.8:c.524G>C | ENSP00000251654.4:p.Gly175Ala | |
| ENST00000459873.1:c.275G>C | ENSP00000419293.1:p.Gly92Ala | |
| ENST00000462542.5:c.391G>C | ||
| ENST00000462637.5:c.455G>C | ENSP00000420391.1:p.Gly152Ala | |
| ENST00000465176.5:n.486G>C | ||
| ENST00000466072.5:c.524G>C | ENSP00000420158.1:p.Gly175Ala | |
| ENST00000468777.5:c.617G>C | ENSP00000419129.1:p.Gly206Ala | |
| ENST00000469217.5:c.584G>C | ENSP00000419027.1:p.Gly195Ala | |
| ENST00000471595.5:c.524G>C | ENSP00000417549.1:p.Gly175Ala | |
| ENST00000473073.1:n.481G>C | ||
| ENST00000474833.5:n.168+11488G>C | ||
| ENST00000475214.5:n.438G>C | ||
| ENST00000478469.5:c.524G>C | ENSP00000420759.1:p.Gly175Ala | |
| ENST00000482086.5:c.176G>C | ENSP00000417253.1:p.Gly59Ala | |
| ENST00000483687.5:c.467G>C | ENSP00000420639.1:p.Gly156Ala | |
| ENST00000484181.5:c.524G>C | ENSP00000417937.1:p.Gly175Ala | |
| ENST00000490504.5:c.372+5423G>C | ENSP00000418307.1:n.372+5423G>C | |
| NM_000532.4:c.524G>C | NP_000523.2:p.Gly175Ala | |
| NM_001178014.1:c.584G>C | NP_001171485.1:p.Gly195Ala | |
| XM_011512873.1:c.524G>C | XP_011511175.1:p.Gly175Ala | |
| XM_011512873.2:c.524G>C | XP_011511175.1:p.Gly175Ala | |
| NM_000532.5:c.524G>C MANE Select | NP_000523.2:p.Gly175Ala | |
| NM_001178014.2:c.584G>C | NP_001171485.1:p.Gly195Ala |