Linked Data
ClinVar Variation Id:
208777
ClinVar RCV Id:
RCV000190803
RCV000254701
RCV000490631
RCV001580372
RCV001808530
RCV001814097
RCV001857676
RCV003996903
dbSNP Id:
rs797044951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351396G>A , CM000678.2:g.56351396G>A | GRCh38 |
| NC_000016.9:g.56385308G>A , CM000678.1:g.56385308G>A | GRCh37 |
| NC_000016.8:g.54942809G>A | NCBI36 |
| NG_042800.1:g.165058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.736G>A MANE Select | ENSP00000262493.6:p.Glu246Lys | |
| ENST00000562316.6:c.403G>A | ENSP00000457238.2:p.Glu135Lys | |
| ENST00000564727.2:c.40G>A | ENSP00000454971.2:p.Glu14Lys | |
| ENST00000568375.2:c.116-3470G>A | ||
| ENST00000638185.1:n.951G>A | ||
| ENST00000638210.1:n.1036G>A | ||
| ENST00000638705.1:c.736G>A | ENSP00000491223.1:p.Glu246Lys | |
| ENST00000638836.1:n.646G>A | ||
| ENST00000639055.1:n.1457G>A | ||
| ENST00000639251.1:n.637G>A | ||
| ENST00000639268.1:c.371G>A | ||
| ENST00000639341.1:c.261G>A | ||
| ENST00000639770.1:c.774G>A | ENSP00000491999.1:n.774G>A | |
| ENST00000640390.1:n.666G>A | ||
| ENST00000640469.1:c.100G>A | ENSP00000491875.1:p.Glu34Lys | |
| ENST00000640560.1:n.512G>A | ||
| ENST00000640893.1:c.*134G>A | ENSP00000492677.1:n.*134G>A | |
| ENST00000262493.10:c.736G>A | ENSP00000262493.6:p.Glu246Lys | |
| ENST00000568375.1:n.116-3470G>A | ||
| NM_020988.2:c.736G>A | NP_066268.1:p.Glu246Lys | |
| XM_011523003.1:c.610G>A | XP_011521305.1:p.Glu204Lys | |
| XM_011523003.3:c.610G>A | XP_011521305.1:p.Glu204Lys | |
| NM_020988.3:c.736G>A MANE Select | NP_066268.1:p.Glu246Lys |