Linked Data
dbSNP Id:
rs777265044
ExAC:
17:59668196 C / G
gnomAD v2:
17-59668196-C-G
gnomAD v4:
17-61590835-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590835C>G , CM000679.2:g.61590835C>G | GRCh38 |
| NC_000017.10:g.59668196C>G , CM000679.1:g.59668196C>G | GRCh37 |
| NC_000017.9:g.57022978C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.346G>C MANE Select | ENSP00000427802.1:p.Ala116Pro | |
| ENST00000521764.2:c.346G>C | ENSP00000427802.1:p.Ala116Pro | |
| NM_199290.3:c.346G>C | NP_954984.1:p.Ala116Pro | |
| NM_199290.4:c.346G>C MANE Select | NP_954984.1:p.Ala116Pro |