Linked Data
ClinVar Variation Id:
330730
ClinVar RCV Id:
RCV000261599
RCV000319080
RCV000591051
RCV000385395
RCV001549752
RCV004544605
RCV001094595
dbSNP Id:
rs149887461
ExAC:
2:110901179 C / T
gnomAD v2:
2-110901179-C-T
gnomAD v3:
2-110143602-C-T
gnomAD v4:
2-110143602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110143602C>T , CM000664.2:g.110143602C>T | GRCh38 |
| NC_000002.11:g.110901179C>T , CM000664.1:g.110901179C>T | GRCh37 |
| NC_000002.10:g.110258468C>T | NCBI36 |
| NG_008287.1:g.66461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1469G>A MANE Select | ENSP00000389879.3:p.Arg490Lys | |
| ENST00000674677.1:c.1514G>A | ENSP00000502265.1:p.Arg505Lys | |
| ENST00000675067.1:c.668G>A | ENSP00000502817.1:p.Arg223Lys | |
| ENST00000675356.1:n.2147G>A | ||
| ENST00000675632.1:n.2873G>A | ||
| ENST00000675752.1:n.3172G>A | ||
| ENST00000676028.1:c.1286G>A | ENSP00000502639.1:p.Arg429Lys | |
| ENST00000676053.1:c.1280G>A | ENSP00000502475.1:p.Arg427Lys | |
| ENST00000676091.1:c.665G>A | ENSP00000502528.1:p.Arg222Lys | |
| ENST00000676165.1:n.3132G>A | ||
| ENST00000676258.1:n.2560G>A | ||
| ENST00000316534.8:c.1637G>A | ENSP00000313169.4:p.Arg546Lys | |
| ENST00000355301.8:c.1280G>A | ENSP00000347452.4:p.Arg427Lys | |
| ENST00000393272.7:c.1634G>A | ENSP00000376953.3:p.Arg545Lys | |
| ENST00000417665.5:c.1466G>A | ENSP00000402176.1:p.Arg489Lys | |
| ENST00000445609.6:c.1469G>A | ENSP00000389879.2:p.Arg490Lys | |
| ENST00000461707.5:n.3054G>A | ||
| ENST00000493051.1:n.96G>A | ||
| ENST00000496524.5:n.3921G>A | ||
| NM_000272.3:c.1637G>A | NP_000263.2:p.Arg546Lys | |
| NM_001128178.1:c.1469G>A | NP_001121650.1:p.Arg490Lys | |
| NM_001128179.1:c.1280G>A | NP_001121651.1:p.Arg427Lys | |
| NM_207181.2:c.1634G>A | NP_997064.2:p.Arg545Lys | |
| XM_005263675.1:c.1634G>A | XP_005263732.1:p.Arg545Lys | |
| XM_005263676.1:c.1469G>A | XP_005263733.1:p.Arg490Lys | |
| XM_005263677.1:c.1466G>A | XP_005263734.1:p.Arg489Lys | |
| XM_005263678.2:c.1637G>A | XP_005263735.1:p.Arg546Lys | |
| XM_005263679.1:c.1466G>A | XP_005263736.1:p.Arg489Lys | |
| XM_006712551.1:c.1637G>A | XP_006712614.1:p.Arg546Lys | |
| XM_011511244.1:c.1637G>A | XP_011509546.1:p.Arg546Lys | |
| XM_017004218.1:c.1469G>A | XP_016859707.1:p.Arg490Lys | |
| NM_000272.4:c.1637G>A | NP_000263.2:p.Arg546Lys | |
| NM_001128178.3:c.1469G>A MANE Select | NP_001121650.1:p.Arg490Lys | |
| NM_001128179.2:c.1280G>A | NP_001121651.1:p.Arg427Lys | |
| NM_001374256.1:c.1466G>A | NP_001361185.1:p.Arg489Lys | |
| NM_001374257.1:c.1469G>A | NP_001361186.1:p.Arg490Lys | |
| NM_207181.3:c.1634G>A | NP_997064.2:p.Arg545Lys | |
| NM_000272.5:c.1637G>A | NP_000263.2:p.Arg546Lys | |
| NM_001128179.3:c.1280G>A | NP_001121651.1:p.Arg427Lys | |
| NM_207181.4:c.1634G>A | NP_997064.2:p.Arg545Lys |