Linked Data
dbSNP Id:
rs777783501
ExAC:
11:9163614 C / T
gnomAD v2:
11-9163614-C-T
gnomAD v4:
11-9142067-C-T
COSMIC:
COSM5839784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142067C>T , CM000673.2:g.9142067C>T | GRCh38 |
| NC_000011.9:g.9163614C>T , CM000673.1:g.9163614C>T | GRCh37 |
| NC_000011.8:g.9120190C>T | NCBI36 |
| NG_053019.1:g.128269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3553G>A MANE Select | ENSP00000328524.3:p.Val1185Ile | |
| ENST00000525784.6:n.1415G>A | ||
| ENST00000530780.2:c.*3379G>A | ENSP00000433925.1:n.*3379G>A | |
| ENST00000531747.2:n.3224G>A | ||
| ENST00000679446.1:n.3474G>A | ||
| ENST00000679458.1:n.4954G>A | ||
| ENST00000679460.1:n.4615G>A | ||
| ENST00000679568.1:c.3553G>A | ENSP00000505860.1:p.Val1185Ile | |
| ENST00000679745.1:n.4058G>A | ||
| ENST00000679773.1:n.2714G>A | ||
| ENST00000679926.1:n.4855G>A | ||
| ENST00000679999.1:c.*610G>A | ENSP00000505198.1:n.*610G>A | |
| ENST00000680252.1:c.3220G>A | ||
| ENST00000680294.1:c.3346G>A | ENSP00000506113.1:p.Val1116Ile | |
| ENST00000680358.1:n.2852G>A | ||
| ENST00000680470.1:c.*1334G>A | ENSP00000505975.1:n.*1334G>A | |
| ENST00000680554.1:c.*86G>A | ENSP00000505621.1:n.*86G>A | |
| ENST00000680576.1:n.5029G>A | ||
| ENST00000680599.1:n.3594G>A | ||
| ENST00000680742.1:c.*86G>A | ENSP00000505206.1:n.*86G>A | |
| ENST00000680791.1:n.2437G>A | ||
| ENST00000680885.1:n.5255G>A | ||
| ENST00000681158.1:c.3137G>A | ||
| ENST00000681203.1:c.3481G>A | ENSP00000506456.1:p.Val1161Ile | |
| ENST00000681371.1:n.3425G>A | ||
| ENST00000681425.1:n.4031G>A | ||
| ENST00000681639.1:n.1832G>A | ||
| ENST00000328194.7:c.3553G>A | ENSP00000328524.3:p.Val1185Ile | |
| ENST00000525784.5:c.489G>A | ||
| ENST00000527700.5:n.3115G>A | ||
| ENST00000528725.5:c.249G>A | ||
| ENST00000529977.5:n.1454G>A | ||
| ENST00000530044.5:c.3553G>A | ENSP00000435866.1:p.Val1185Ile | |
| ENST00000531747.1:c.789G>A | ||
| ENST00000533737.5:c.216G>A | ||
| NM_001243254.1:c.3553G>A | NP_001230183.1:p.Val1185Ile | |
| NM_015213.3:c.3553G>A | NP_056028.2:p.Val1185Ile | |
| XM_005252832.1:c.3553G>A | XP_005252889.1:p.Val1185Ile | |
| XM_011519952.1:c.3553G>A | XP_011518254.1:p.Val1185Ile | |
| XM_011519953.1:c.1651G>A | XP_011518255.1:p.Val551Ile | |
| XR_242782.2:n.3735G>A | ||
| XR_930851.1:n.3735G>A | ||
| NM_001348749.1:c.3481G>A | NP_001335678.1:p.Val1161Ile | |
| NM_001348750.1:c.3265G>A | NP_001335679.1:p.Val1089Ile | |
| NR_145966.2:n.3727G>A | ||
| NM_015213.4:c.3553G>A MANE Select | NP_056028.2:p.Val1185Ile | |
| NM_001243254.2:c.3553G>A | NP_001230183.1:p.Val1185Ile | |
| NM_001348749.2:c.3481G>A | NP_001335678.1:p.Val1161Ile | |
| NM_001348750.2:c.3265G>A | NP_001335679.1:p.Val1089Ile |