Linked Data
dbSNP Id:
rs777411653
ExAC:
2:172712458 A / G
gnomAD v2:
2-172712458-A-G
gnomAD v4:
2-171855948-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855948A>G , CM000664.2:g.171855948A>G | GRCh38 |
| NC_000002.11:g.172712458A>G , CM000664.1:g.172712458A>G | GRCh37 |
| NC_000002.10:g.172420704A>G | NCBI36 |
| NG_011781.1:g.43356T>C | |
| NG_011781.2:g.43356T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.211T>C MANE Select | ENSP00000388658.2:p.Leu71= | |
| ENST00000263812.8:c.210-11440T>C | ENSP00000263812.4:n.210-11440T>C | |
| ENST00000422440.6:c.211T>C | ENSP00000388658.2:p.Leu71= | |
| ENST00000426896.5:c.211T>C | ENSP00000413968.1:p.Leu71= | |
| ENST00000464063.1:n.532T>C | ||
| ENST00000472748.5:n.376T>C | ||
| ENST00000475360.6:c.199T>C | ENSP00000437845.1:p.Leu67= | |
| ENST00000484227.5:n.409T>C | ||
| NM_003705.4:c.211T>C | NP_003696.2:p.Leu71= | |
| NR_047549.1:n.302-11440T>C | ||
| XM_005246923.3:c.160T>C | XP_005246980.1:p.Leu54= | |
| XM_011512069.1:c.211T>C | XP_011510371.1:p.Leu71= | |
| XM_011512070.1:c.-167T>C | XP_011510372.1:n.-167T>C | |
| XM_011512070.3:c.-167T>C | XP_011510372.1:n.-167T>C | |
| NM_003705.5:c.211T>C MANE Select | NP_003696.2:p.Leu71= | |
| NR_047549.2:n.240-11440T>C |