Linked Data
dbSNP Id:
rs1211875203
gnomAD v2:
4-74286010-T-C
gnomAD v3:
4-73420293-T-C
gnomAD v4:
4-73420293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420293T>C , CM000666.2:g.73420293T>C | GRCh38 |
| NC_000004.11:g.74286010T>C , CM000666.1:g.74286010T>C | GRCh37 |
| NC_000004.10:g.74504874T>C | NCBI36 |
| NG_009291.1:g.21039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1825T>C MANE Select | ENSP00000295897.4:p.Leu609= | |
| ENST00000295897.8:c.1825T>C | ENSP00000295897.4:p.Leu609= | |
| ENST00000401494.7:c.1480T>C | ENSP00000384695.3:p.Leu494= | |
| ENST00000415165.6:c.1249T>C | ENSP00000401820.2:p.Leu417= | |
| ENST00000476441.6:c.*1104T>C | ENSP00000423727.1:n.*1104T>C | |
| ENST00000495173.1:n.133T>C | ||
| ENST00000503124.5:c.1375T>C | ENSP00000421027.1:p.Leu459= | |
| ENST00000505649.5:n.1372T>C | ||
| ENST00000508932.5:n.215T>C | ||
| ENST00000509063.5:c.1785+654T>C | ENSP00000422784.1:n.1785+654T>C | |
| ENST00000511370.1:c.1358T>C | ||
| ENST00000621085.4:c.1186T>C | ENSP00000483421.1:p.Leu396= | |
| ENST00000621628.4:c.1186T>C | ENSP00000480485.1:p.Leu396= | |
| NM_000477.5:c.1825T>C | NP_000468.1:p.Leu609= | |
| NM_000477.6:c.1825T>C | NP_000468.1:p.Leu609= | |
| NM_000477.7:c.1825T>C MANE Select | NP_000468.1:p.Leu609= |