Linked Data
ClinVar Variation Id:
11726
ClinVar RCV Id:
RCV000012492
dbSNP Id:
rs122445097
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574326A>G , CM000685.2:g.77574326A>G | GRCh38 |
| NC_000023.10:g.76829791A>G , CM000685.1:g.76829791A>G | GRCh37 |
| NC_000023.9:g.76716447A>G | NCBI36 |
| NG_008838.2:g.216896T>C | |
| NG_008838.3:g.216944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6250T>C MANE Select | ENSP00000362441.4:p.Tyr2084His | |
| ENST00000636152.1:n.85T>C | ||
| ENST00000675732.1:c.1348T>C | ENSP00000502598.1:p.Tyr450His | |
| ENST00000373344.9:c.6250T>C | ENSP00000362441.4:p.Tyr2084His | |
| ENST00000395603.7:c.6136T>C | ENSP00000378967.3:p.Tyr2046His | |
| ENST00000480283.5:c.*5878T>C | ENSP00000480196.1:n.*5878T>C | |
| ENST00000623316.1:c.734T>C | ||
| ENST00000623706.3:n.3320T>C | ||
| NM_000489.4:c.6250T>C | NP_000480.3:p.Tyr2084His | |
| NM_138270.3:c.6136T>C | NP_612114.2:p.Tyr2046His | |
| XM_005262153.3:c.6247T>C | XP_005262210.2:p.Tyr2083His | |
| XM_005262154.3:c.6163T>C | XP_005262211.2:p.Tyr2055His | |
| XM_005262155.3:c.6133T>C | XP_005262212.2:p.Tyr2045His | |
| XM_005262156.3:c.6085T>C | XP_005262213.2:p.Tyr2029His | |
| XM_005262157.3:c.6046T>C | XP_005262214.2:p.Tyr2016His | |
| XM_006724666.2:c.6133T>C | XP_006724729.1:p.Tyr2045His | |
| XM_006724667.2:c.5971T>C | XP_006724730.1:p.Tyr1991His | |
| XR_938400.1:n.6592T>C | ||
| NM_000489.5:c.6250T>C | NP_000480.3:p.Tyr2084His | |
| XM_005262153.5:c.6247T>C | XP_005262210.2:p.Tyr2083His | |
| XM_005262154.5:c.6163T>C | XP_005262211.2:p.Tyr2055His | |
| XM_005262155.4:c.6133T>C | XP_005262212.2:p.Tyr2045His | |
| XM_005262156.4:c.6085T>C | XP_005262213.2:p.Tyr2029His | |
| XM_005262157.5:c.6046T>C | XP_005262214.2:p.Tyr2016His | |
| XM_006724666.4:c.6133T>C | XP_006724729.1:p.Tyr2045His | |
| XM_006724667.3:c.5971T>C | XP_006724730.1:p.Tyr1991His | |
| XM_017029601.2:c.6160T>C | XP_016885090.1:p.Tyr2054His | |
| XM_017029602.1:c.6130T>C | XP_016885091.1:p.Tyr2044His | |
| XM_017029603.1:c.6082T>C | XP_016885092.1:p.Tyr2028His | |
| XM_017029604.2:c.6049T>C | XP_016885093.1:p.Tyr2017His | |
| XM_017029605.1:c.6046T>C | XP_016885094.1:p.Tyr2016His | |
| XM_017029606.2:c.6019T>C | XP_016885095.1:p.Tyr2007His | |
| XM_017029607.2:c.6016T>C | XP_016885096.1:p.Tyr2006His | |
| XM_017029608.2:c.5968T>C | XP_016885097.1:p.Tyr1990His | |
| XM_017029609.1:c.5932T>C | XP_016885098.1:p.Tyr1978His | |
| XM_017029610.1:c.5929T>C | XP_016885099.1:p.Tyr1977His | |
| XM_017029611.1:c.5884T>C | XP_016885100.1:p.Tyr1962His | |
| XR_001755700.2:n.6549T>C | ||
| NM_138270.4:c.6136T>C | NP_612114.2:p.Tyr2046His | |
| NM_000489.6:c.6250T>C MANE Select | NP_000480.3:p.Tyr2084His | |
| NM_138270.5:c.6136T>C | NP_612114.2:p.Tyr2046His |