Linked Data
dbSNP Id:
rs1207959996
gnomAD v2:
13-103498005-T-C
gnomAD v3:
13-102845655-T-C
gnomAD v4:
13-102845655-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102845655T>C , CM000675.2:g.102845655T>C | GRCh38 |
| NC_000013.10:g.103498005T>C , CM000675.1:g.103498005T>C | GRCh37 |
| NC_000013.9:g.102296006T>C | NCBI36 |
| NG_007146.1:g.4832T>C , LRG_464:g.4832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638434.1:c.363-8102T>C (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-3463T>C (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+5852T>C (BIVM-ERCC5) | ENSP00000492684.1:n.763+5852T>C | |
| ENST00000639435.1:c.1450+5852T>C (BIVM-ERCC5) | ENSP00000491742.1:n.1450+5852T>C | |
| ENST00000355739.8:c.-612T>C (ERCC5) | ENSP00000347978.4:n.-612T>C | |
| ENST00000602836.1:c.1364+5852T>C (BIVM-ERCC5) | ||
| NM_001204425.1:c.1450+5852T>C (BIVM-ERCC5) | NP_001191354.1:n.1450+5852T>C | |
| NM_001204425.2:c.1450+5852T>C (BIVM-ERCC5) | NP_001191354.2:n.1450+5852T>C |