Linked Data
dbSNP Id:
rs751991618
ExAC:
2:172712395 T / A
gnomAD v2:
2-172712395-T-A
gnomAD v4:
2-171855885-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855885T>A , CM000664.2:g.171855885T>A | GRCh38 |
| NC_000002.11:g.172712395T>A , CM000664.1:g.172712395T>A | GRCh37 |
| NC_000002.10:g.172420641T>A | NCBI36 |
| NG_011781.1:g.43419A>T | |
| NG_011781.2:g.43419A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.274A>T MANE Select | ENSP00000388658.2:p.Ile92Leu | |
| ENST00000263812.8:c.210-11377A>T | ENSP00000263812.4:n.210-11377A>T | |
| ENST00000422440.6:c.274A>T | ENSP00000388658.2:p.Ile92Leu | |
| ENST00000426896.5:c.274A>T | ENSP00000413968.1:p.Ile92Leu | |
| ENST00000472748.5:n.439A>T | ||
| ENST00000475360.6:c.262A>T | ENSP00000437845.1:p.Ile88Leu | |
| ENST00000484227.5:n.472A>T | ||
| NM_003705.4:c.274A>T | NP_003696.2:p.Ile92Leu | |
| NR_047549.1:n.302-11377A>T | ||
| XM_005246923.3:c.223A>T | XP_005246980.1:p.Ile75Leu | |
| XM_011512069.1:c.274A>T | XP_011510371.1:p.Ile92Leu | |
| XM_011512070.1:c.-104A>T | XP_011510372.1:n.-104A>T | |
| XM_011512070.3:c.-104A>T | XP_011510372.1:n.-104A>T | |
| NM_003705.5:c.274A>T MANE Select | NP_003696.2:p.Ile92Leu | |
| NR_047549.2:n.240-11377A>T |