Linked Data
dbSNP Id:
rs1015892237
gnomAD v2:
4-142654661-T-A
gnomAD v3:
4-141733508-T-A
gnomAD v4:
4-141733508-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141733508T>A , CM000666.2:g.141733508T>A | GRCh38 |
| NC_000004.11:g.142654661T>A , CM000666.1:g.142654661T>A | GRCh37 |
| NC_000004.10:g.142874111T>A | NCBI36 |
| NG_029605.1:g.101913T>A | |
| NG_029605.2:g.101913T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320650.9:c.*660T>A MANE Select | ENSP00000323505.4:n.*660T>A | |
| ENST00000296545.11:c.*660T>A | ENSP00000296545.7:n.*660T>A | |
| ENST00000394159.2:c.1068T>A | ENSP00000377714.1:n.1068T>A | |
| NM_000585.4:c.*660T>A | NP_000576.1:n.*660T>A | |
| NM_172175.2:c.*660T>A | NP_751915.1:n.*660T>A | |
| NR_037840.2:n.1999T>A | ||
| NM_000585.5:c.*660T>A MANE Select | NP_000576.1:n.*660T>A | |
| NM_172175.3:c.*660T>A | NP_751915.1:n.*660T>A | |
| NR_037840.3:n.2012T>A |