Linked Data
dbSNP Id:
rs749195383
ExAC:
15:89872016 G / C
gnomAD v2:
15-89872016-G-C
gnomAD v4:
15-89328785-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328785G>C , CM000677.2:g.89328785G>C | GRCh38 |
| NC_000015.9:g.89872016G>C , CM000677.1:g.89872016G>C | GRCh37 |
| NC_000015.8:g.87673020G>C | NCBI36 |
| NG_008218.1:g.11011C>G | |
| NG_008218.2:g.11011C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1070C>G | ENSP00000516154.1:p.Ala357Gly | |
| ENST00000268124.11:c.1070C>G MANE Select | ENSP00000268124.5:p.Ala357Gly | |
| ENST00000530292.3:c.671C>G | ENSP00000432885.2:p.Ala224Gly | |
| ENST00000635986.2:c.1070C>G | ENSP00000490653.2:p.Ala357Gly | |
| ENST00000636774.1:c.1070C>G | ENSP00000489799.1:p.Ala357Gly | |
| ENST00000637264.1:c.142C>G | ||
| ENST00000666746.1:c.727C>G | ||
| ENST00000672071.1:n.1268C>G | ||
| ENST00000672923.2:n.67C>G | ||
| ENST00000268124.9:c.1070C>G | ENSP00000268124.5:p.Ala357Gly | |
| ENST00000442287.6:c.1070C>G | ENSP00000399851.2:p.Ala357Gly | |
| ENST00000631044.2:c.*453C>G | ENSP00000486730.1:n.*453C>G | |
| NM_001126131.1:c.1070C>G | NP_001119603.1:p.Ala357Gly | |
| NM_002693.2:c.1070C>G | NP_002684.1:p.Ala357Gly | |
| NM_001126131.2:c.1070C>G | NP_001119603.1:p.Ala357Gly | |
| NM_002693.3:c.1070C>G MANE Select | NP_002684.1:p.Ala357Gly |