Linked Data
dbSNP Id:
rs12665445
gnomAD v2:
6-35468039-G-T
gnomAD v3:
6-35500262-G-T
gnomAD v4:
6-35500262-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500262G>T , CM000668.2:g.35500262G>T | GRCh38 |
| NC_000006.11:g.35468039G>T , CM000668.1:g.35468039G>T | GRCh37 |
| NC_000006.10:g.35576017G>T | NCBI36 |
| NG_009077.1:g.17609C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1324-110C>A MANE Select | ENSP00000229771.6:n.1324-110C>A | |
| ENST00000229771.10:c.1324-110C>A | ENSP00000229771.6:n.1324-110C>A | |
| ENST00000322263.8:c.1165-110C>A | ENSP00000319414.4:n.1165-110C>A | |
| ENST00000495781.1:n.500-110C>A | ||
| ENST00000614066.4:c.1318-110C>A | ENSP00000477534.1:n.1318-110C>A | |
| NM_001289395.1:c.1165-110C>A | NP_001276324.1:n.1165-110C>A | |
| NM_003322.4:c.1324-110C>A | NP_003313.3:n.1324-110C>A | |
| NM_003322.5:c.1324-110C>A | NP_003313.3:n.1324-110C>A | |
| NM_003322.6:c.1324-110C>A MANE Select | NP_003313.3:n.1324-110C>A | |
| NM_001289395.2:c.1165-110C>A | NP_001276324.1:n.1165-110C>A |