Linked Data
ClinVar Variation Id:
143123
dbSNP Id:
rs527236080
ExAC:
6:10804063 C / T
gnomAD v2:
6-10804063-C-T
gnomAD v3:
6-10803830-C-T
gnomAD v4:
6-10803830-C-T
COSMIC:
COSM3154780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10803830C>T , CM000668.2:g.10803830C>T | GRCh38 |
| NC_000006.11:g.10804063C>T , CM000668.1:g.10804063C>T | GRCh37 |
| NC_000006.10:g.10912049C>T | NCBI36 |
| NG_030040.1:g.39726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354489.7:c.553G>A (MAK) MANE Select | ENSP00000346484.3:p.Ala185Thr | |
| ENST00000536370.6:c.553G>A (MAK) | ENSP00000442221.2:p.Ala185Thr | |
| ENST00000538030.3:c.553G>A (MAK) | ENSP00000442250.1:p.Ala185Thr | |
| ENST00000675026.1:c.553G>A (MAK) | ENSP00000502542.1:p.Ala185Thr | |
| ENST00000676116.1:c.451G>A (MAK) | ENSP00000502045.1:p.Ala151Thr | |
| ENST00000313243.6:c.553G>A (MAK) | ENSP00000313021.2:p.Ala185Thr | |
| ENST00000354489.6:c.553G>A (MAK) | ENSP00000346484.3:p.Ala185Thr | |
| ENST00000460341.5:c.*120+33626C>T (TMEM14B) | ENSP00000417095.1:n.*120+33626C>T | |
| ENST00000463100.5:c.*121-25177C>T (TMEM14B) | ENSP00000419806.1:n.*121-25177C>T | |
| ENST00000463448.5:c.*120+33626C>T (TMEM14B) | ENSP00000419208.1:n.*120+33626C>T | |
| ENST00000467229.1:c.285-25177C>T (TMEM14B) | ||
| ENST00000473166.5:c.*121-22734C>T (TMEM14B) | ENSP00000417416.1:n.*121-22734C>T | |
| ENST00000474039.5:c.553G>A (MAK) | ENSP00000476067.1:p.Ala185Thr | |
| ENST00000480294.1:c.100+54132C>T | ENSP00000417929.1:n.100+54132C>T | |
| ENST00000489137.1:n.129-22734C>T (TMEM14B) | ||
| ENST00000536370.5:c.553G>A (MAK) | ENSP00000442221.2:p.Ala185Thr | |
| ENST00000538030.2:c.553G>A (MAK) | ENSP00000442250.1:p.Ala185Thr | |
| NM_001242385.1:c.553G>A (MAK) | NP_001229314.1:p.Ala185Thr | |
| NM_001242957.1:c.553G>A (MAK) | NP_001229886.1:p.Ala185Thr | |
| NM_005906.4:c.553G>A (MAK) | NP_005897.1:p.Ala185Thr | |
| XM_011514619.1:c.553G>A (MAK) | XP_011512921.1:p.Ala185Thr | |
| XM_011514620.1:c.553G>A (MAK) | XP_011512922.1:p.Ala185Thr | |
| XM_011514621.1:c.496G>A (MAK) | XP_011512923.1:p.Ala166Thr | |
| XM_011514622.1:c.553G>A (MAK) | XP_011512924.1:p.Ala185Thr | |
| XM_011514623.1:c.-15G>A (MAK) | XP_011512925.1:n.-15G>A | |
| XR_926215.1:n.885G>A (MAK) | ||
| XR_926216.1:n.921G>A (MAK) | ||
| XR_926217.1:n.885G>A (MAK) | ||
| XR_926219.1:n.885G>A (MAK) | ||
| XR_926220.1:n.885G>A (MAK) | ||
| XR_926221.1:n.885G>A (MAK) | ||
| NM_001242957.2:c.553G>A (MAK) | NP_001229886.1:p.Ala185Thr | |
| NM_005906.5:c.553G>A (MAK) | NP_005897.1:p.Ala185Thr | |
| NR_134935.1:n.835G>A (MAK) | ||
| NR_134936.1:n.924G>A (MAK) | ||
| XM_011514619.2:c.553G>A (MAK) | XP_011512921.1:p.Ala185Thr | |
| XM_011514620.2:c.553G>A (MAK) | XP_011512922.1:p.Ala185Thr | |
| XM_011514621.2:c.496G>A (MAK) | XP_011512923.1:p.Ala166Thr | |
| XM_011514622.3:c.553G>A (MAK) | XP_011512924.1:p.Ala185Thr | |
| XM_017010863.2:c.553G>A (MAK) | XP_016866352.1:p.Ala185Thr | |
| XM_017010864.2:c.553G>A (MAK) | XP_016866353.1:p.Ala185Thr | |
| XM_017010865.1:c.496G>A (MAK) | XP_016866354.1:p.Ala166Thr | |
| XM_017010866.2:c.553G>A (MAK) | XP_016866355.1:p.Ala185Thr | |
| XM_024446443.1:c.-15G>A (MAK) | XP_024302211.1:n.-15G>A | |
| XM_024446444.1:c.553G>A (MAK) | XP_024302212.1:p.Ala185Thr | |
| XR_001743419.2:n.823G>A (MAK) | ||
| XR_002956283.1:n.823G>A (MAK) | ||
| XR_926215.3:n.823G>A (MAK) | ||
| XR_926220.3:n.823G>A (MAK) | ||
| NM_001242957.3:c.553G>A (MAK) MANE Select | NP_001229886.1:p.Ala185Thr | |
| NM_001377262.1:c.451G>A (MAK) | NP_001364191.1:p.Ala151Thr | |
| NM_005906.6:c.553G>A (MAK) | NP_005897.1:p.Ala185Thr | |
| NR_134935.2:n.819G>A (MAK) | ||
| NR_134936.2:n.980G>A (MAK) | ||
| NM_001242385.2:c.553G>A (MAK) | NP_001229314.1:p.Ala185Thr |