Linked Data
dbSNP Id:
rs750854541
ExAC:
13:52971995 G / A
gnomAD v2:
13-52971995-G-A
gnomAD v3:
13-52397860-G-A
gnomAD v4:
13-52397860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397860G>A , CM000675.2:g.52397860G>A | GRCh38 |
| NC_000013.10:g.52971995G>A , CM000675.1:g.52971995G>A | GRCh37 |
| NC_000013.9:g.51869996G>A | NCBI36 |
| NG_047168.1:g.13635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.393C>T MANE Select | ENSP00000258613.4:p.His131= | |
| ENST00000648254.1:c.393C>T | ENSP00000497520.1:p.His131= | |
| ENST00000258613.4:c.393C>T | ENSP00000258613.4:p.His131= | |
| ENST00000349258.8:c.393C>T | ENSP00000340650.4:p.His131= | |
| NM_018676.3:c.393C>T | NP_061146.1:p.His131= | |
| NM_199263.2:c.393C>T | NP_954872.1:p.His131= | |
| NM_018676.4:c.393C>T MANE Select | NP_061146.1:p.His131= | |
| NM_199263.3:c.393C>T | NP_954872.1:p.His131= |