Linked Data
ClinVar Variation Id:
1174756
dbSNP Id:
rs1042058
ExAC:
10:30728101 T / C
gnomAD v2:
10-30728101-T-C
gnomAD v3:
10-30439172-T-C
gnomAD v4:
10-30439172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30439172T>C , CM000672.2:g.30439172T>C | GRCh38 |
| NC_000010.10:g.30728101T>C , CM000672.1:g.30728101T>C | GRCh37 |
| NC_000010.9:g.30768107T>C | NCBI36 |
| NG_029984.1:g.10152T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263056.6:c.234T>C MANE Select | ENSP00000263056.1:p.Tyr78= | |
| ENST00000263056.5:c.234T>C | ENSP00000263056.1:p.Tyr78= | |
| ENST00000375321.1:c.234T>C | ENSP00000364470.1:p.Tyr78= | |
| ENST00000375322.2:c.234T>C | ENSP00000364471.1:p.Tyr78= | |
| ENST00000413724.5:c.234T>C | ENSP00000391275.1:p.Tyr78= | |
| ENST00000415139.5:c.234T>C | ENSP00000409653.1:p.Tyr78= | |
| ENST00000542547.5:c.234T>C | ENSP00000443610.1:p.Tyr78= | |
| NM_001244134.1:c.234T>C | NP_001231063.1:p.Tyr78= | |
| NM_005204.3:c.234T>C | NP_005195.2:p.Tyr78= | |
| XM_005252364.2:c.234T>C | XP_005252421.2:p.Tyr78= | |
| XM_011519308.1:c.549T>C | XP_011517610.1:p.Tyr183= | |
| XM_011519309.1:c.423+4424T>C | XP_011517611.1:n.423+4424T>C | |
| XM_011519310.1:c.234T>C | XP_011517612.1:p.Tyr78= | |
| XM_011519311.1:c.234T>C | XP_011517613.1:p.Tyr78= | |
| XM_011519312.1:c.234T>C | XP_011517614.1:p.Tyr78= | |
| XM_011519313.1:c.234T>C | XP_011517615.1:p.Tyr78= | |
| XM_011519314.1:c.234T>C | XP_011517616.1:p.Tyr78= | |
| XM_011519315.1:c.234T>C | XP_011517617.1:p.Tyr78= | |
| NM_001320961.1:c.234T>C | NP_001307890.1:p.Tyr78= | |
| XM_017015708.1:c.234T>C | XP_016871197.1:p.Tyr78= | |
| XM_017015709.2:c.234T>C | XP_016871198.1:p.Tyr78= | |
| XM_017015710.1:c.234T>C | XP_016871199.1:p.Tyr78= | |
| XM_017015711.2:c.-3618T>C | XP_016871200.1:n.-3618T>C | |
| XM_017015712.1:c.-3618T>C | XP_016871201.1:n.-3618T>C | |
| XM_017015713.1:c.-3618T>C | XP_016871202.1:n.-3618T>C | |
| XM_017015714.1:c.-3618T>C | XP_016871203.1:n.-3618T>C | |
| XM_024447819.1:c.-3618T>C | XP_024303587.1:n.-3618T>C | |
| NM_005204.4:c.234T>C MANE Select | NP_005195.2:p.Tyr78= | |
| NM_001320961.2:c.234T>C | NP_001307890.1:p.Tyr78= |