Linked Data
ClinVar Variation Id:
2648774
dbSNP Id:
rs757391517
ExAC:
18:59713149 G / C
gnomAD v2:
18-59713149-G-C
gnomAD v3:
18-62045916-G-C
gnomAD v4:
18-62045916-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62045916G>C , CM000680.2:g.62045916G>C | GRCh38 |
| NC_000018.9:g.59713149G>C , CM000680.1:g.59713149G>C | GRCh37 |
| NC_000018.8:g.57864129G>C | NCBI36 |
| NG_033144.1:g.146141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2736C>G | ENSP00000350263.4:p.Ala912= | |
| ENST00000638167.1:c.2334C>G | ENSP00000491549.1:p.Ala778= | |
| ENST00000638369.1:c.2553C>G | ENSP00000491811.1:p.Ala851= | |
| ENST00000638424.1:c.*704C>G | ENSP00000491963.1:n.*704C>G | |
| ENST00000638435.1:c.2505C>G | ENSP00000491850.1:p.Ala835= | |
| ENST00000638858.1:n.2832C>G | ||
| ENST00000638904.1:c.*744C>G | ENSP00000491318.1:n.*744C>G | |
| ENST00000638936.1:c.2736C>G | ENSP00000492592.1:p.Ala912= | |
| ENST00000638977.1:c.2676C>G | ENSP00000491010.1:p.Ala892= | |
| ENST00000639342.1:c.2484C>G | ENSP00000491022.1:p.Ala828= | |
| ENST00000639372.1:c.679C>G | ||
| ENST00000639491.1:n.1366C>G | ||
| ENST00000639600.1:c.2142+26757C>G | ||
| ENST00000639681.1:c.*1993C>G | ENSP00000491929.1:n.*1993C>G | |
| ENST00000639758.1:c.2676C>G | ENSP00000491475.1:p.Ala892= | |
| ENST00000639902.1:c.2853C>G | ENSP00000490965.1:p.Ala951= | |
| ENST00000639912.1:c.2676C>G | ENSP00000490970.1:p.Ala892= | |
| ENST00000640050.1:c.2736C>G | ENSP00000492051.1:p.Ala912= | |
| ENST00000640145.1:c.2736C>G | ENSP00000491525.1:p.Ala912= | |
| ENST00000640170.1:c.*2096C>G | ENSP00000491270.1:n.*2096C>G | |
| ENST00000640252.2:c.2736C>G MANE Select | ENSP00000492233.1:p.Ala912= | |
| ENST00000640268.1:c.*1125C>G | ENSP00000491111.1:n.*1125C>G | |
| ENST00000640540.1:c.2853C>G | ENSP00000491620.1:p.Ala951= | |
| ENST00000640593.1:c.*1694C>G | ENSP00000492017.1:n.*1694C>G | |
| ENST00000640682.1:c.1879C>G | ENSP00000491415.1:n.1879C>G | |
| ENST00000640876.1:c.2736C>G | ENSP00000491628.1:p.Ala912= | |
| ENST00000357637.9:c.2736C>G | ENSP00000350263.4:p.Ala912= | |
| ENST00000400334.7:c.2736C>G | ENSP00000383188.2:p.Ala912= | |
| ENST00000587942.1:n.1603C>G | ||
| NM_012327.5:c.2736C>G | NP_036459.1:p.Ala912= | |
| NM_176787.4:c.2736C>G | NP_789744.1:p.Ala912= | |
| XM_011525889.1:c.2853C>G | XP_011524191.1:p.Ala951= | |
| XM_011525890.1:c.2853C>G | XP_011524192.1:p.Ala951= | |
| XM_011525891.1:c.2853C>G | XP_011524193.1:p.Ala951= | |
| XM_011525892.1:c.2853C>G | XP_011524194.1:p.Ala951= | |
| XM_011525893.1:c.2853C>G | XP_011524195.1:p.Ala951= | |
| XM_011525894.1:c.2853C>G | XP_011524196.1:p.Ala951= | |
| XM_011525895.1:c.2853C>G | XP_011524197.1:p.Ala951= | |
| XM_011525896.1:c.2796C>G | XP_011524198.1:p.Ala932= | |
| XM_011525897.1:c.2793C>G | XP_011524199.1:p.Ala931= | |
| XM_017025685.1:c.2451C>G | XP_016881174.1:p.Ala817= | |
| XM_017025686.1:c.2334C>G | XP_016881175.1:p.Ala778= | |
| NM_176787.5:c.2736C>G MANE Select | NP_789744.1:p.Ala912= | |
| NM_012327.6:c.2736C>G | NP_036459.1:p.Ala912= |