Linked Data
dbSNP Id:
rs1215241071
gnomAD v2:
2-27590733-G-A
gnomAD v3:
2-27367866-G-A
gnomAD v4:
2-27367866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27367866G>A , CM000664.2:g.27367866G>A | GRCh38 |
| NC_000002.11:g.27590733G>A , CM000664.1:g.27590733G>A | GRCh37 |
| NC_000002.10:g.27444237G>A | NCBI36 |
| NG_009305.1:g.7592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347454.9:c.706-44C>T MANE Select | ENSP00000233552.6:n.706-44C>T | |
| ENST00000347454.8:c.706-44C>T | ENSP00000233552.5:n.706-44C>T | |
| ENST00000405940.6:c.680-44C>T | ENSP00000384375.2:n.680-44C>T | |
| ENST00000417567.1:c.282-44C>T | ||
| ENST00000445933.6:c.703-44C>T | ENSP00000394397.2:n.703-44C>T | |
| ENST00000451130.6:c.766-44C>T | ENSP00000394869.2:n.766-44C>T | |
| ENST00000475582.5:n.1985C>T | ||
| ENST00000493344.6:c.769-44C>T | ENSP00000429323.1:n.769-44C>T | |
| ENST00000616081.4:c.697-44C>T | ENSP00000477710.1:n.697-44C>T | |
| ENST00000622434.4:c.661-44C>T | ENSP00000479991.1:n.661-44C>T | |
| NM_001034116.1:c.706-44C>T | NP_001029288.1:n.706-44C>T | |
| NM_015636.3:c.703-44C>T | NP_056451.3:n.703-44C>T | |
| NM_172195.3:c.766-44C>T | NP_751945.2:n.766-44C>T | |
| XM_005264632.1:c.661-44C>T | XP_005264689.1:n.661-44C>T | |
| XM_006712132.1:c.658-44C>T | XP_006712195.1:n.658-44C>T | |
| XM_011533147.1:c.88-44C>T | XP_011531449.1:n.88-44C>T | |
| NM_001318965.1:c.769-44C>T | NP_001305894.1:n.769-44C>T | |
| NM_001318966.1:c.661-44C>T | NP_001305895.1:n.661-44C>T | |
| NM_001318967.1:c.613-44C>T | NP_001305896.1:n.613-44C>T | |
| NM_001318968.1:c.121-44C>T | NP_001305897.1:n.121-44C>T | |
| NM_001318969.1:c.88-44C>T | NP_001305898.1:n.88-44C>T | |
| XM_011533147.2:c.88-44C>T | XP_011531449.1:n.88-44C>T | |
| NM_001034116.2:c.706-44C>T MANE Select | NP_001029288.1:n.706-44C>T | |
| NM_001318965.2:c.769-44C>T | NP_001305894.1:n.769-44C>T | |
| NM_001318966.2:c.661-44C>T | NP_001305895.1:n.661-44C>T | |
| NM_001318967.2:c.613-44C>T | NP_001305896.1:n.613-44C>T | |
| NM_001318968.2:c.121-44C>T | NP_001305897.1:n.121-44C>T | |
| NM_001318969.2:c.88-44C>T | NP_001305898.1:n.88-44C>T | |
| NM_015636.4:c.703-44C>T | NP_056451.3:n.703-44C>T | |
| NM_172195.4:c.766-44C>T | NP_751945.2:n.766-44C>T |