Linked Data
ClinVar Variation Id:
3215635
ClinVar RCV Id:
RCV004509431
dbSNP Id:
rs376548374
ExAC:
22:50722143 G / A
gnomAD v2:
22-50722143-G-A
gnomAD v3:
22-50283714-G-A
gnomAD v4:
22-50283714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50283714G>A , CM000684.2:g.50283714G>A | GRCh38 |
| NC_000022.10:g.50722143G>A , CM000684.1:g.50722143G>A | GRCh37 |
| NC_000022.9:g.49064270G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359337.9:c.2458C>T MANE Select | ENSP00000352288.4:p.Arg820Cys | |
| ENST00000359337.8:c.2458C>T | ENSP00000352288.4:p.Arg820Cys | |
| ENST00000411680.1:c.203-5018C>T | ENSP00000400679.1:n.203-5018C>T | |
| ENST00000449103.5:c.2458C>T | ENSP00000409171.1:p.Arg820Cys | |
| ENST00000496720.1:n.693C>T | ||
| NM_012401.3:c.2458C>T | NP_036533.2:p.Arg820Cys | |
| XM_005261909.1:c.2458C>T | XP_005261966.1:p.Arg820Cys | |
| XM_005261910.1:c.2458C>T | XP_005261967.1:p.Arg820Cys | |
| XM_005261911.3:c.2458C>T | XP_005261968.1:p.Arg820Cys | |
| XM_006724413.1:c.2458C>T | XP_006724476.1:p.Arg820Cys | |
| XM_011530682.1:c.2647C>T | XP_011528984.1:p.Arg883Cys | |
| XM_011530683.1:c.2458C>T | XP_011528985.1:p.Arg820Cys | |
| XM_011530684.1:c.2647C>T | XP_011528986.1:p.Arg883Cys | |
| XM_005261910.3:c.2458C>T | XP_005261967.1:p.Arg820Cys | |
| XM_005261911.4:c.2458C>T | XP_005261968.1:p.Arg820Cys | |
| XM_006724413.2:c.2458C>T | XP_006724476.1:p.Arg820Cys | |
| XM_011530682.2:c.2647C>T | XP_011528984.1:p.Arg883Cys | |
| XM_017028703.1:c.2458C>T | XP_016884192.1:p.Arg820Cys | |
| XM_017028704.2:c.2458C>T | XP_016884193.1:p.Arg820Cys | |
| XR_002958678.1:n.5826C>T | ||
| NM_012401.4:c.2458C>T MANE Select | NP_036533.2:p.Arg820Cys | |
| NM_001376864.1:c.2458C>T | NP_001363793.1:p.Arg820Cys | |
| NM_001376865.1:c.2527C>T | NP_001363794.1:p.Arg843Cys | |
| NM_001376866.1:c.2458C>T | NP_001363795.1:p.Arg820Cys | |
| NM_001376867.1:c.2458C>T | NP_001363796.1:p.Arg820Cys | |
| NM_001376868.1:c.2458C>T | NP_001363797.1:p.Arg820Cys | |
| NM_001376869.1:c.2458C>T | NP_001363798.1:p.Arg820Cys | |
| NM_001376870.1:c.2458C>T | NP_001363799.1:p.Arg820Cys | |
| NM_001376871.1:c.2458C>T | NP_001363800.1:p.Arg820Cys | |
| NM_001376872.1:c.2458C>T | NP_001363801.1:p.Arg820Cys | |
| NM_001376873.1:c.2458C>T | NP_001363802.1:p.Arg820Cys | |
| NM_001376874.1:c.2458C>T | NP_001363803.1:p.Arg820Cys | |
| NM_001376875.1:c.2458C>T | NP_001363804.1:p.Arg820Cys | |
| NM_001376876.1:c.2458C>T | NP_001363805.1:p.Arg820Cys | |
| NM_001376877.1:c.2458C>T | NP_001363806.1:p.Arg820Cys | |
| NM_001376878.1:c.2458C>T | NP_001363807.1:p.Arg820Cys | |
| NM_001376879.1:c.2458C>T | NP_001363808.1:p.Arg820Cys | |
| NM_001376880.1:c.2458C>T | NP_001363809.1:p.Arg820Cys | |
| NM_001376881.1:c.2458C>T | NP_001363810.1:p.Arg820Cys | |
| NM_001376882.1:c.2458C>T | NP_001363811.1:p.Arg820Cys | |
| NM_001376883.1:c.2458C>T | NP_001363812.1:p.Arg820Cys | |
| NM_001376884.1:c.2458C>T | NP_001363813.1:p.Arg820Cys | |
| NM_001376885.1:c.2458C>T | NP_001363814.1:p.Arg820Cys | |
| NM_001376886.1:c.2365C>T | NP_001363815.1:p.Arg789Cys |