Linked Data
dbSNP Id:
rs1557692291
gnomAD v4:
1-16996114-C-T
MyVariant Identifiers:
chr1:g.17322609C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16996114C>T , CM000663.2:g.16996114C>T | GRCh38 |
| NC_000001.10:g.17322609C>T , CM000663.1:g.17322609C>T | GRCh37 |
| NC_000001.9:g.17195196C>T | NCBI36 |
| NG_009054.1:g.20815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.1404G>A MANE Select | ENSP00000327214.8:p.Val468= | |
| ENST00000326735.12:c.1404G>A | ENSP00000327214.8:p.Val468= | |
| ENST00000341676.9:c.1389G>A | ENSP00000341115.5:p.Val463= | |
| ENST00000452699.5:c.1389G>A | ENSP00000413307.1:p.Val463= | |
| ENST00000463860.5:n.1012G>A | ||
| ENST00000502860.1:n.432G>A | ||
| ENST00000503552.1:c.81G>A | ENSP00000421126.1:p.Val27= | |
| ENST00000506174.5:c.546G>A | ENSP00000424393.1:p.Val182= | |
| ENST00000509392.1:n.492G>A | ||
| ENST00000617114.4:c.432G>A | ENSP00000478781.1:p.Val144= | |
| NM_001141973.2:c.1389G>A | NP_001135445.1:p.Val463= | |
| NM_001141974.2:c.1389G>A | NP_001135446.1:p.Val463= | |
| NM_022089.3:c.1404G>A | NP_071372.1:p.Val468= | |
| XM_005245809.1:c.1404G>A | XP_005245866.1:p.Val468= | |
| XM_005245810.1:c.1401G>A | XP_005245867.1:p.Val467= | |
| XM_005245811.1:c.1389G>A | XP_005245868.1:p.Val463= | |
| XM_005245812.1:c.1377G>A | XP_005245869.1:p.Val459= | |
| XM_005245813.1:c.1404G>A | XP_005245870.1:p.Val468= | |
| XM_005245815.1:c.1404G>A | XP_005245872.1:p.Val468= | |
| XM_006710512.1:c.1386G>A | XP_006710575.1:p.Val462= | |
| XM_006710513.1:c.1362G>A | XP_006710576.1:p.Val454= | |
| XM_011541128.1:c.1404G>A | XP_011539430.1:p.Val468= | |
| XM_011541129.1:c.1404G>A | XP_011539431.1:p.Val468= | |
| XM_017000844.1:c.1404G>A | XP_016856333.1:p.Val468= | |
| XM_017000845.1:c.1386G>A | XP_016856334.1:p.Val462= | |
| XM_017000846.1:c.1362G>A | XP_016856335.1:p.Val454= | |
| XM_017000847.1:c.1374G>A | XP_016856336.1:p.Val458= | |
| XM_017000848.1:c.1404G>A | XP_016856337.1:p.Val468= | |
| XM_017000849.1:c.1389G>A | XP_016856338.1:p.Val463= | |
| XM_017000850.1:c.1404G>A | XP_016856339.1:p.Val468= | |
| NM_022089.4:c.1404G>A MANE Select | NP_071372.1:p.Val468= | |
| NM_001141973.3:c.1389G>A | NP_001135445.1:p.Val463= | |
| NM_001141974.3:c.1389G>A | NP_001135446.1:p.Val463= |