Linked Data
ClinVar Variation Id:
420062
dbSNP Id:
rs113994030
ExAC:
2:27590667 G / A
gnomAD v2:
2-27590667-G-A
gnomAD v3:
2-27367800-G-A
gnomAD v4:
2-27367800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27367800G>A , CM000664.2:g.27367800G>A | GRCh38 |
| NC_000002.11:g.27590667G>A , CM000664.1:g.27590667G>A | GRCh37 |
| NC_000002.10:g.27444171G>A | NCBI36 |
| NG_009305.1:g.7658C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347454.9:c.728C>T MANE Select | ENSP00000233552.6:p.Pro243Leu | |
| ENST00000347454.8:c.728C>T | ENSP00000233552.5:p.Pro243Leu | |
| ENST00000405940.6:c.702C>T | ENSP00000384375.2:p.Thr234= | |
| ENST00000417567.1:c.304C>T | ||
| ENST00000445933.6:c.725C>T | ENSP00000394397.2:p.Pro242Leu | |
| ENST00000451130.6:c.788C>T | ENSP00000394869.2:p.Pro263Leu | |
| ENST00000475582.5:n.2051C>T | ||
| ENST00000493344.6:c.791C>T | ENSP00000429323.1:p.Pro264Leu | |
| ENST00000616081.4:c.719C>T | ENSP00000477710.1:p.Pro240Leu | |
| ENST00000622434.4:c.681C>T | ENSP00000479991.1:p.Thr227= | |
| NM_001034116.1:c.728C>T | NP_001029288.1:p.Pro243Leu | |
| NM_015636.3:c.725C>T | NP_056451.3:p.Pro242Leu | |
| NM_172195.3:c.788C>T | NP_751945.2:p.Pro263Leu | |
| XM_005264632.1:c.683C>T | XP_005264689.1:p.Pro228Leu | |
| XM_006712132.1:c.680C>T | XP_006712195.1:p.Pro227Leu | |
| XM_011533147.1:c.110C>T | XP_011531449.1:p.Pro37Leu | |
| NM_001318965.1:c.791C>T | NP_001305894.1:p.Pro264Leu | |
| NM_001318966.1:c.683C>T | NP_001305895.1:p.Pro228Leu | |
| NM_001318967.1:c.635C>T | NP_001305896.1:p.Pro212Leu | |
| NM_001318968.1:c.143C>T | NP_001305897.1:p.Pro48Leu | |
| NM_001318969.1:c.110C>T | NP_001305898.1:p.Pro37Leu | |
| XM_011533147.2:c.110C>T | XP_011531449.1:p.Pro37Leu | |
| NM_001034116.2:c.728C>T MANE Select | NP_001029288.1:p.Pro243Leu | |
| NM_001318965.2:c.791C>T | NP_001305894.1:p.Pro264Leu | |
| NM_001318966.2:c.683C>T | NP_001305895.1:p.Pro228Leu | |
| NM_001318967.2:c.635C>T | NP_001305896.1:p.Pro212Leu | |
| NM_001318968.2:c.143C>T | NP_001305897.1:p.Pro48Leu | |
| NM_001318969.2:c.110C>T | NP_001305898.1:p.Pro37Leu | |
| NM_015636.4:c.725C>T | NP_056451.3:p.Pro242Leu | |
| NM_172195.4:c.788C>T | NP_751945.2:p.Pro263Leu |