Linked Data
dbSNP Id:
rs747043466
gnomAD v2:
19-6685014-G-A
gnomAD v3:
19-6685003-G-A
gnomAD v4:
19-6685003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685003G>A , CM000681.2:g.6685003G>A | GRCh38 |
| NC_000019.9:g.6685014G>A , CM000681.1:g.6685014G>A | GRCh37 |
| NC_000019.8:g.6636014G>A | NCBI36 |
| NG_009557.1:g.40649C>T , LRG_27:g.40649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2302C>T | ||
| ENST00000695653.1:c.1863C>T | ENSP00000512084.1:p.Leu621= | |
| ENST00000695654.1:c.2979C>T | ENSP00000512085.1:p.Leu993= | |
| ENST00000695690.1:n.145C>T | ||
| ENST00000695691.1:n.145C>T | ||
| ENST00000245907.11:c.3954C>T MANE Select | ENSP00000245907.4:p.Leu1318= | |
| ENST00000245907.10:c.3954C>T | ENSP00000245907.4:p.Leu1318= | |
| ENST00000596238.1:n.397C>T | ||
| ENST00000596548.1:c.36C>T | ENSP00000469744.1:p.Leu12= | |
| ENST00000601008.1:c.241+1743C>T | ENSP00000471384.1:n.241+1743C>T | |
| NM_000064.3:c.3954C>T | NP_000055.2:p.Leu1318= | |
| NM_000064.4:c.3954C>T MANE Select | NP_000055.2:p.Leu1318= |