Linked Data
dbSNP Id:
rs377419980
ExAC:
19:9324917 C / T
gnomAD v2:
19-9324917-C-T
gnomAD v3:
19-9214241-C-T
gnomAD v4:
19-9214241-C-T
COSMIC:
COSM568506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214241C>T , CM000681.2:g.9214241C>T | GRCh38 |
| NC_000019.9:g.9324917C>T , CM000681.1:g.9324917C>T | GRCh37 |
| NC_000019.8:g.9185917C>T | NCBI36 |
| NG_027953.1:g.5631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.597G>A | ENSP00000493404.1:p.Leu199= | |
| ENST00000641669.1:c.597G>A MANE Select | ENSP00000493383.1:p.Leu199= | |
| ENST00000308682.3:c.597G>A | ENSP00000310488.2:p.Leu199= | |
| NM_001005191.2:c.597G>A | NP_001005191.1:p.Leu199= | |
| NM_001005191.3:c.597G>A MANE Select | NP_001005191.1:p.Leu199= |