Linked Data
ClinVar Variation Id:
2850084
ClinVar RCV Id:
RCV003688132
dbSNP Id:
rs141666148
ExAC:
6:35467909 C / T
gnomAD v2:
6-35467909-C-T
gnomAD v3:
6-35500132-C-T
gnomAD v4:
6-35500132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500132C>T , CM000668.2:g.35500132C>T | GRCh38 |
| NC_000006.11:g.35467909C>T , CM000668.1:g.35467909C>T | GRCh37 |
| NC_000006.10:g.35575887C>T | NCBI36 |
| NG_009077.1:g.17739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1344G>A MANE Select | ENSP00000229771.6:p.Val448= | |
| ENST00000229771.10:c.1344G>A | ENSP00000229771.6:p.Val448= | |
| ENST00000322263.8:c.1185G>A | ENSP00000319414.4:p.Val395= | |
| ENST00000495781.1:n.520G>A | ||
| ENST00000614066.4:c.1338G>A | ENSP00000477534.1:p.Val446= | |
| NM_001289395.1:c.1185G>A | NP_001276324.1:p.Val395= | |
| NM_003322.4:c.1344G>A | NP_003313.3:p.Val448= | |
| NM_003322.5:c.1344G>A | NP_003313.3:p.Val448= | |
| NM_003322.6:c.1344G>A MANE Select | NP_003313.3:p.Val448= | |
| NM_001289395.2:c.1185G>A | NP_001276324.1:p.Val395= |