Linked Data
dbSNP Id:
rs377419980
ExAC:
19:9324917 C / G
gnomAD v2:
19-9324917-C-G
gnomAD v3:
19-9214241-C-G
gnomAD v4:
19-9214241-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214241C>G , CM000681.2:g.9214241C>G | GRCh38 |
| NC_000019.9:g.9324917C>G , CM000681.1:g.9324917C>G | GRCh37 |
| NC_000019.8:g.9185917C>G | NCBI36 |
| NG_027953.1:g.5631G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.597G>C | ENSP00000493404.1:p.Leu199Phe | |
| ENST00000641669.1:c.597G>C MANE Select | ENSP00000493383.1:p.Leu199Phe | |
| ENST00000308682.3:c.597G>C | ENSP00000310488.2:p.Leu199Phe | |
| NM_001005191.2:c.597G>C | NP_001005191.1:p.Leu199Phe | |
| NM_001005191.3:c.597G>C MANE Select | NP_001005191.1:p.Leu199Phe |