Linked Data
dbSNP Id:
rs759954457
ExAC:
13:48955609 T / C
gnomAD v2:
13-48955609-T-C
gnomAD v4:
13-48381473-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381473T>C , CM000675.2:g.48381473T>C | GRCh38 |
| NC_000013.10:g.48955609T>C , CM000675.1:g.48955609T>C | GRCh37 |
| NC_000013.9:g.47853610T>C | NCBI36 |
| NG_009009.1:g.82727T>C , LRG_517:g.82727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1695+30T>C MANE Select | ENSP00000267163.4:n.1695+30T>C | |
| ENST00000643064.1:c.194+30T>C | ||
| ENST00000650461.1:c.1695+30T>C | ENSP00000497193.1:n.1695+30T>C | |
| ENST00000267163.4:c.1695+30T>C | ENSP00000267163.4:n.1695+30T>C | |
| NM_000321.2:c.1695+30T>C , LRG_517t1:c.1695+30T>C | NP_000312.2:n.1695+30T>C | |
| XM_011535171.1:c.1434+30T>C | XP_011533473.1:n.1434+30T>C | |
| XM_011535171.2:c.1434+30T>C | XP_011533473.1:n.1434+30T>C | |
| NM_000321.3:c.1695+30T>C MANE Select | NP_000312.2:n.1695+30T>C |