Linked Data
ClinVar Variation Id:
255852
ClinVar RCV Id:
RCV000252827
RCV000282590
RCV000297937
RCV000394071
RCV000398536
RCV000513070
RCV001083859
RCV004529423
dbSNP Id:
rs148028364
ExAC:
17:62049575 T / G
gnomAD v2:
17-62049575-T-G
gnomAD v3:
17-63972215-T-G
gnomAD v4:
17-63972215-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63972215T>G , CM000679.2:g.63972215T>G | GRCh38 |
| NC_000017.10:g.62049575T>G , CM000679.1:g.62049575T>G | GRCh37 |
| NC_000017.9:g.59403307T>G | NCBI36 |
| NG_011699.1:g.5704A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.403A>C MANE Select | ENSP00000396320.1:p.Met135Leu | |
| ENST00000578147.5:c.403A>C | ENSP00000463963.1:p.Met135Leu | |
| NM_000334.4:c.403A>C MANE Select | NP_000325.4:p.Met135Leu | |
| XM_005257566.3:c.403A>C | XP_005257623.1:p.Met135Leu |