Linked Data
dbSNP Id:
rs753171733
ExAC:
15:89871967 A / G
gnomAD v2:
15-89871967-A-G
gnomAD v4:
15-89328736-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328736A>G , CM000677.2:g.89328736A>G | GRCh38 |
| NC_000015.9:g.89871967A>G , CM000677.1:g.89871967A>G | GRCh37 |
| NC_000015.8:g.87672971A>G | NCBI36 |
| NG_008218.1:g.11060T>C | |
| NG_008218.2:g.11060T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1119T>C | ENSP00000516154.1:p.Pro373= | |
| ENST00000268124.11:c.1119T>C MANE Select | ENSP00000268124.5:p.Pro373= | |
| ENST00000530292.3:c.720T>C | ENSP00000432885.2:p.Pro240= | |
| ENST00000635986.2:c.1119T>C | ENSP00000490653.2:p.Pro373= | |
| ENST00000636774.1:c.1119T>C | ENSP00000489799.1:p.Pro373= | |
| ENST00000637264.1:c.191T>C | ||
| ENST00000666746.1:c.776T>C | ||
| ENST00000672071.1:n.1317T>C | ||
| ENST00000672923.2:n.116T>C | ||
| ENST00000268124.9:c.1119T>C | ENSP00000268124.5:p.Pro373= | |
| ENST00000442287.6:c.1119T>C | ENSP00000399851.2:p.Pro373= | |
| ENST00000631044.2:c.*502T>C | ENSP00000486730.1:n.*502T>C | |
| NM_001126131.1:c.1119T>C | NP_001119603.1:p.Pro373= | |
| NM_002693.2:c.1119T>C | NP_002684.1:p.Pro373= | |
| NM_001126131.2:c.1119T>C | NP_001119603.1:p.Pro373= | |
| NM_002693.3:c.1119T>C MANE Select | NP_002684.1:p.Pro373= |