Linked Data
dbSNP Id:
rs747358501
ExAC:
9:97401553 G / C
gnomAD v2:
9-97401553-G-C
gnomAD v3:
9-94639271-G-C
gnomAD v4:
9-94639271-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639271G>C , CM000671.2:g.94639271G>C | GRCh38 |
| NC_000009.11:g.97401553G>C , CM000671.1:g.97401553G>C | GRCh37 |
| NC_000009.10:g.96441374G>C | NCBI36 |
| NG_008174.1:g.5979C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.40C>G | ENSP00000507547.1:p.Leu14Val | |
| ENST00000375326.9:c.40C>G MANE Select | ENSP00000364475.5:p.Leu14Val | |
| ENST00000375326.8:c.40C>G | ENSP00000364475.4:p.Leu14Val | |
| ENST00000414122.1:c.-83+773C>G | ENSP00000411619.1:n.-83+773C>G | |
| ENST00000415431.5:c.40C>G | ENSP00000408025.1:p.Leu14Val | |
| NM_000507.3:c.40C>G | NP_000498.2:p.Leu14Val | |
| NM_001127628.1:c.40C>G | NP_001121100.1:p.Leu14Val | |
| XM_006717005.2:c.-77+773C>G | XP_006717068.1:n.-77+773C>G | |
| XM_006717005.4:c.-77+773C>G | XP_006717068.1:n.-77+773C>G | |
| NM_000507.4:c.40C>G MANE Select | NP_000498.2:p.Leu14Val | |
| NM_001127628.2:c.40C>G | NP_001121100.1:p.Leu14Val |