Linked Data
ClinVar Variation Id:
191548
ClinVar RCV Id:
RCV000171774
RCV000191018
RCV000247418
RCV000990299
RCV001706109
RCV001256962
RCV003917588
dbSNP Id:
rs56157422
ExAC:
20:32000520 G / C
gnomAD v2:
20-32000520-G-C
gnomAD v3:
20-33412714-G-C
gnomAD v4:
20-33412714-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33412714G>C , CM000682.2:g.33412714G>C | GRCh38 |
| NC_000020.10:g.32000520G>C , CM000682.1:g.32000520G>C | GRCh37 |
| NC_000020.9:g.31464181G>C | NCBI36 |
| NG_011622.1:g.36179C>G , LRG_332:g.36179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.770C>G MANE Select | ENSP00000217381.2:p.Ala257Gly | |
| ENST00000217381.2:c.770C>G | ENSP00000217381.2:p.Ala257Gly | |
| NM_003098.2:c.770C>G , LRG_332t1:c.770C>G | NP_003089.1:p.Ala257Gly | |
| XM_005260517.1:c.770C>G | XP_005260574.1:p.Ala257Gly | |
| XM_011529007.1:c.770C>G | XP_011527309.1:p.Ala257Gly | |
| XM_011529008.1:c.770C>G | XP_011527310.1:p.Ala257Gly | |
| XR_936612.1:n.1003C>G | ||
| XM_024451971.1:c.443C>G | XP_024307739.1:p.Ala148Gly | |
| NM_003098.3:c.770C>G MANE Select | NP_003089.1:p.Ala257Gly |