Linked Data
ClinVar Variation Id:
3170257
ClinVar RCV Id:
RCV004460687
dbSNP Id:
rs755486839
gnomAD v2:
6-89808337-T-A
gnomAD v3:
6-89098618-T-A
gnomAD v4:
6-89098618-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89098618T>A , CM000668.2:g.89098618T>A | GRCh38 |
| NC_000006.11:g.89808337T>A , CM000668.1:g.89808337T>A | GRCh37 |
| NC_000006.10:g.89865056T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452027.3:c.746A>T (SRSF12) MANE Select | ENSP00000414302.2:p.His249Leu | |
| ENST00000452027.2:c.746A>T (SRSF12) | ENSP00000414302.2:p.His249Leu | |
| NM_080743.4:c.746A>T (SRSF12) | NP_542781.3:p.His249Leu | |
| XM_006715348.2:c.461A>T (SRSF12) | XP_006715411.1:p.His154Leu | |
| XM_011535481.1:c.-94+948T>A (PM20D2) | XP_011533783.1:n.-94+948T>A | |
| XM_011535483.1:c.701A>T (SRSF12) | XP_011533785.1:p.His234Leu | |
| XM_011535484.1:c.461A>T (SRSF12) | XP_011533786.1:p.His154Leu | |
| XM_011535481.3:c.-94+948T>A (PM20D2) | XP_011533783.1:n.-94+948T>A | |
| XM_011535483.2:c.701A>T (SRSF12) | XP_011533785.1:p.His234Leu | |
| XM_017010292.1:c.746A>T (SRSF12) | XP_016865781.1:p.His249Leu | |
| NM_080743.5:c.746A>T (SRSF12) MANE Select | NP_542781.3:p.His249Leu | |
| NM_001376896.1:c.461A>T (SRSF12) | NP_001363825.1:p.His154Leu | |
| NM_001376897.1:c.461A>T (SRSF12) | NP_001363826.1:p.His154Leu | |
| NM_001376898.1:c.461A>T (SRSF12) | NP_001363827.1:p.His154Leu |