Linked Data
ClinVar Variation Id:
29782
ClinVar RCV Id:
RCV000022649
dbSNP Id:
rs387906646
gnomAD v4:
6-10808913-T-G
PubMed:
PMID:21835304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10808913T>G , CM000668.2:g.10808913T>G | GRCh38 |
| NC_000006.11:g.10809146T>G , CM000668.1:g.10809146T>G | GRCh37 |
| NC_000006.10:g.10917132T>G | NCBI36 |
| NG_030040.1:g.34643A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354489.7:c.388A>C (MAK) MANE Select | ENSP00000346484.3:p.Asn130His | |
| ENST00000536370.6:c.388A>C (MAK) | ENSP00000442221.2:p.Asn130His | |
| ENST00000538030.3:c.388A>C (MAK) | ENSP00000442250.1:p.Asn130His | |
| ENST00000675026.1:c.388A>C (MAK) | ENSP00000502542.1:p.Asn130His | |
| ENST00000676116.1:c.286A>C (MAK) | ENSP00000502045.1:p.Asn96His | |
| ENST00000313243.6:c.388A>C (MAK) | ENSP00000313021.2:p.Asn130His | |
| ENST00000354489.6:c.388A>C (MAK) | ENSP00000346484.3:p.Asn130His | |
| ENST00000460341.5:c.*121-29111T>G (TMEM14B) | ENSP00000417095.1:n.*121-29111T>G | |
| ENST00000463100.5:c.*121-20094T>G (TMEM14B) | ENSP00000419806.1:n.*121-20094T>G | |
| ENST00000463448.5:c.*120+38709T>G (TMEM14B) | ENSP00000419208.1:n.*120+38709T>G | |
| ENST00000467229.1:c.285-20094T>G (TMEM14B) | ||
| ENST00000473166.5:c.*121-17651T>G (TMEM14B) | ENSP00000417416.1:n.*121-17651T>G | |
| ENST00000474039.5:c.388A>C (MAK) | ENSP00000476067.1:p.Asn130His | |
| ENST00000480294.1:c.100+59215T>G | ENSP00000417929.1:n.100+59215T>G | |
| ENST00000489137.1:n.129-17651T>G (TMEM14B) | ||
| ENST00000536370.5:c.388A>C (MAK) | ENSP00000442221.2:p.Asn130His | |
| ENST00000538030.2:c.388A>C (MAK) | ENSP00000442250.1:p.Asn130His | |
| NM_001242385.1:c.388A>C (MAK) | NP_001229314.1:p.Asn130His | |
| NM_001242957.1:c.388A>C (MAK) | NP_001229886.1:p.Asn130His | |
| NM_005906.4:c.388A>C (MAK) | NP_005897.1:p.Asn130His | |
| XM_011514619.1:c.388A>C (MAK) | XP_011512921.1:p.Asn130His | |
| XM_011514620.1:c.388A>C (MAK) | XP_011512922.1:p.Asn130His | |
| XM_011514621.1:c.331A>C (MAK) | XP_011512923.1:p.Asn111His | |
| XM_011514622.1:c.388A>C (MAK) | XP_011512924.1:p.Asn130His | |
| XM_011514623.1:c.-77+4731A>C (MAK) | XP_011512925.1:n.-77+4731A>C | |
| XR_926215.1:n.720A>C (MAK) | ||
| XR_926216.1:n.756A>C (MAK) | ||
| XR_926217.1:n.720A>C (MAK) | ||
| XR_926219.1:n.720A>C (MAK) | ||
| XR_926220.1:n.720A>C (MAK) | ||
| XR_926221.1:n.720A>C (MAK) | ||
| NM_001242957.2:c.388A>C (MAK) | NP_001229886.1:p.Asn130His | |
| NM_005906.5:c.388A>C (MAK) | NP_005897.1:p.Asn130His | |
| NR_134935.1:n.670A>C (MAK) | ||
| NR_134936.1:n.759A>C (MAK) | ||
| XM_011514619.2:c.388A>C (MAK) | XP_011512921.1:p.Asn130His | |
| XM_011514620.2:c.388A>C (MAK) | XP_011512922.1:p.Asn130His | |
| XM_011514621.2:c.331A>C (MAK) | XP_011512923.1:p.Asn111His | |
| XM_011514622.3:c.388A>C (MAK) | XP_011512924.1:p.Asn130His | |
| XM_017010863.2:c.388A>C (MAK) | XP_016866352.1:p.Asn130His | |
| XM_017010864.2:c.388A>C (MAK) | XP_016866353.1:p.Asn130His | |
| XM_017010865.1:c.331A>C (MAK) | XP_016866354.1:p.Asn111His | |
| XM_017010866.2:c.388A>C (MAK) | XP_016866355.1:p.Asn130His | |
| XM_024446443.1:c.-77+4731A>C (MAK) | XP_024302211.1:n.-77+4731A>C | |
| XM_024446444.1:c.388A>C (MAK) | XP_024302212.1:p.Asn130His | |
| XR_001743419.2:n.658A>C (MAK) | ||
| XR_002956283.1:n.658A>C (MAK) | ||
| XR_926215.3:n.658A>C (MAK) | ||
| XR_926220.3:n.658A>C (MAK) | ||
| NM_001242957.3:c.388A>C (MAK) MANE Select | NP_001229886.1:p.Asn130His | |
| NM_001377262.1:c.286A>C (MAK) | NP_001364191.1:p.Asn96His | |
| NM_005906.6:c.388A>C (MAK) | NP_005897.1:p.Asn130His | |
| NR_134935.2:n.654A>C (MAK) | ||
| NR_134936.2:n.815A>C (MAK) | ||
| NM_001242385.2:c.388A>C (MAK) | NP_001229314.1:p.Asn130His |