Linked Data
ClinVar Variation Id:
2173822
ClinVar RCV Id:
RCV002584761
dbSNP Id:
rs752528349
ExAC:
8:41790749 C / T
gnomAD v2:
8-41790749-C-T
gnomAD v4:
8-41933231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933231C>T , CM000670.2:g.41933231C>T | GRCh38 |
| NC_000008.10:g.41790749C>T , CM000670.1:g.41790749C>T | GRCh37 |
| NC_000008.9:g.41909906C>T | NCBI36 |
| NG_042093.1:g.123796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.4989G>A MANE Select | ENSP00000265713.2:p.Pro1663= | |
| ENST00000396930.4:c.4989G>A | ENSP00000380136.3:p.Pro1663= | |
| ENST00000406337.6:c.4995G>A | ENSP00000385888.2:p.Pro1665= | |
| ENST00000648335.1:c.4989G>A | ENSP00000497086.1:p.Pro1663= | |
| ENST00000649817.1:c.3670G>A | ||
| ENST00000265713.6:c.4989G>A | ENSP00000265713.2:p.Pro1663= | |
| ENST00000396930.3:c.4989G>A | ENSP00000380136.3:p.Pro1663= | |
| ENST00000406337.5:c.4989G>A | ENSP00000385888.1:p.Pro1663= | |
| NM_001099412.1:c.4989G>A | NP_001092882.1:p.Pro1663= | |
| NM_001099413.1:c.4989G>A | NP_001092883.1:p.Pro1663= | |
| NM_006766.3:c.4989G>A | NP_006757.2:p.Pro1663= | |
| NM_006766.4:c.4989G>A | NP_006757.2:p.Pro1663= | |
| XM_011544656.1:c.5121G>A | XP_011542958.1:p.Pro1707= | |
| XM_011544657.1:c.5121G>A | XP_011542959.1:p.Pro1707= | |
| XM_011544658.1:c.5121G>A | XP_011542960.1:p.Pro1707= | |
| XM_011544659.1:c.5100G>A | XP_011542961.1:p.Pro1700= | |
| XM_011544660.1:c.5007G>A | XP_011542962.1:p.Pro1669= | |
| XM_011544656.2:c.5121G>A | XP_011542958.1:p.Pro1707= | |
| XM_011544657.3:c.5121G>A | XP_011542959.1:p.Pro1707= | |
| XM_011544658.3:c.5121G>A | XP_011542960.1:p.Pro1707= | |
| XM_011544659.2:c.5100G>A | XP_011542961.1:p.Pro1700= | |
| XM_017013863.1:c.4989G>A | XP_016869352.1:p.Pro1663= | |
| XM_017013864.2:c.4989G>A | XP_016869353.1:p.Pro1663= | |
| XM_024447285.1:c.3561G>A | XP_024303053.1:p.Pro1187= | |
| NM_006766.5:c.4989G>A MANE Select | NP_006757.2:p.Pro1663= |