Linked Data
dbSNP Id:
rs763755491
ExAC:
10:120907290 T / C
gnomAD v2:
10-120907290-T-C
gnomAD v4:
10-119147778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147778T>C , CM000672.2:g.119147778T>C | GRCh38 |
| NC_000010.10:g.120907290T>C , CM000672.1:g.120907290T>C | GRCh37 |
| NC_000010.9:g.120897280T>C | NCBI36 |
| NG_033895.1:g.22915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.815A>G MANE Select | ENSP00000347924.2:p.Lys272Arg | |
| ENST00000355697.6:c.815A>G | ENSP00000347924.2:p.Lys272Arg | |
| ENST00000369131.8:c.467A>G | ENSP00000358127.4:p.Lys156Arg | |
| ENST00000461438.5:n.844A>G | ||
| ENST00000466218.5:n.764A>G | ||
| ENST00000484960.5:n.145A>G | ||
| ENST00000490417.6:n.278A>G | ||
| NM_213649.1:c.815A>G | NP_998814.1:p.Lys272Arg | |
| NR_110305.1:n.833A>G | ||
| XM_005269525.3:c.788A>G | XP_005269582.1:p.Lys263Arg | |
| XM_005269526.1:c.467A>G | XP_005269583.1:p.Lys156Arg | |
| XM_005269527.1:c.467A>G | XP_005269584.1:p.Lys156Arg | |
| XM_011539282.1:c.467A>G | XP_011537584.1:p.Lys156Arg | |
| XR_945603.1:n.877A>G | ||
| XM_005269525.5:c.788A>G | XP_005269582.1:p.Lys263Arg | |
| XM_005269526.2:c.467A>G | XP_005269583.1:p.Lys156Arg | |
| XM_011539282.2:c.467A>G | XP_011537584.1:p.Lys156Arg | |
| XM_024447793.1:c.467A>G | XP_024303561.1:p.Lys156Arg | |
| XR_001747022.1:n.1066A>G | ||
| XR_001747023.1:n.960A>G | ||
| XR_945603.3:n.896A>G | ||
| NM_213649.2:c.815A>G MANE Select | NP_998814.1:p.Lys272Arg |