Linked Data
dbSNP Id:
rs140262638
ExAC:
17:59668199 G / A
gnomAD v2:
17-59668199-G-A
gnomAD v4:
17-61590838-G-A
COSMIC:
COSM4489171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590838G>A , CM000679.2:g.61590838G>A | GRCh38 |
| NC_000017.10:g.59668199G>A , CM000679.1:g.59668199G>A | GRCh37 |
| NC_000017.9:g.57022981G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.343C>T MANE Select | ENSP00000427802.1:p.Pro115Ser | |
| ENST00000521764.2:c.343C>T | ENSP00000427802.1:p.Pro115Ser | |
| NM_199290.3:c.343C>T | NP_954984.1:p.Pro115Ser | |
| NM_199290.4:c.343C>T MANE Select | NP_954984.1:p.Pro115Ser |