Linked Data
dbSNP Id:
rs1336383795
gnomAD v2:
16-88713680-T-C
gnomAD v3:
16-88647272-T-C
gnomAD v4:
16-88647272-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88647272T>C , CM000678.2:g.88647272T>C | GRCh38 |
| NC_000016.9:g.88713680T>C , CM000678.1:g.88713680T>C | GRCh37 |
| NC_000016.8:g.87241181T>C | NCBI36 |
| NG_007291.1:g.8778A>G , LRG_52:g.8778A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.129-97A>G | ENSP00000455537.2:n.129-97A>G | |
| ENST00000696156.1:c.129-97A>G | ENSP00000512446.1:n.129-97A>G | |
| ENST00000696157.1:c.129-97A>G | ENSP00000512447.1:n.129-97A>G | |
| ENST00000696158.1:c.129-97A>G | ENSP00000512448.1:n.129-97A>G | |
| ENST00000696159.1:c.129-97A>G | ENSP00000512449.1:n.129-97A>G | |
| ENST00000696160.1:c.129-97A>G | ENSP00000512450.1:n.129-97A>G | |
| ENST00000696161.1:c.129-97A>G | ENSP00000512451.1:n.129-97A>G | |
| ENST00000696162.1:c.129-97A>G | ENSP00000512452.1:n.129-97A>G | |
| ENST00000696163.1:c.129-97A>G | ENSP00000512453.1:n.129-97A>G | |
| ENST00000261623.8:c.129-97A>G MANE Select | ENSP00000261623.3:n.129-97A>G | |
| ENST00000261623.7:c.129-97A>G | ENSP00000261623.3:n.129-97A>G | |
| ENST00000562209.1:n.147-97A>G | ||
| ENST00000563526.5:n.104-97A>G | ||
| ENST00000566229.1:c.118-97A>G | ENSP00000457060.1:n.118-97A>G | |
| ENST00000566534.5:n.151-97A>G | ||
| ENST00000567174.5:c.129-97A>G | ENSP00000454951.1:n.129-97A>G | |
| ENST00000568278.1:c.129-97A>G | ENSP00000455506.1:n.129-97A>G | |
| ENST00000569359.5:c.129-97A>G | ENSP00000456079.1:n.129-97A>G | |
| NM_000101.3:c.129-97A>G | NP_000092.2:n.129-97A>G | |
| XM_011522905.1:c.129-97A>G | XP_011521207.1:n.129-97A>G | |
| XM_011522905.3:c.129-97A>G | XP_011521207.1:n.129-97A>G | |
| NM_000101.4:c.129-97A>G MANE Select | NP_000092.2:n.129-97A>G |