Linked Data
ClinVar Variation Id:
2907152
ClinVar RCV Id:
RCV003734533
dbSNP Id:
rs774448249
ExAC:
6:35467921 G / A
gnomAD v2:
6-35467921-G-A
gnomAD v3:
6-35500144-G-A
gnomAD v4:
6-35500144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500144G>A , CM000668.2:g.35500144G>A | GRCh38 |
| NC_000006.11:g.35467921G>A , CM000668.1:g.35467921G>A | GRCh37 |
| NC_000006.10:g.35575899G>A | NCBI36 |
| NG_009077.1:g.17727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1332C>T MANE Select | ENSP00000229771.6:p.Asp444= | |
| ENST00000229771.10:c.1332C>T | ENSP00000229771.6:p.Asp444= | |
| ENST00000322263.8:c.1173C>T | ENSP00000319414.4:p.Asp391= | |
| ENST00000495781.1:n.508C>T | ||
| ENST00000614066.4:c.1326C>T | ENSP00000477534.1:p.Asp442= | |
| NM_001289395.1:c.1173C>T | NP_001276324.1:p.Asp391= | |
| NM_003322.4:c.1332C>T | NP_003313.3:p.Asp444= | |
| NM_003322.5:c.1332C>T | NP_003313.3:p.Asp444= | |
| NM_003322.6:c.1332C>T MANE Select | NP_003313.3:p.Asp444= | |
| NM_001289395.2:c.1173C>T | NP_001276324.1:p.Asp391= |