Linked Data
ClinVar Variation Id:
2164615
ClinVar RCV Id:
RCV003088124
dbSNP Id:
rs375433526
ExAC:
7:128041110 T / C
gnomAD v2:
7-128041110-T-C
gnomAD v3:
7-128401056-T-C
gnomAD v4:
7-128401056-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128401056T>C , CM000669.2:g.128401056T>C | GRCh38 |
| NC_000007.13:g.128041110T>C , CM000669.1:g.128041110T>C | GRCh37 |
| NC_000007.12:g.127828346T>C | NCBI36 |
| NG_009194.1:g.13927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.355A>G | ENSP00000265385.8:p.Met119Val | |
| ENST00000484496.6:n.319A>G | ||
| ENST00000338791.11:c.463A>G MANE Select | ENSP00000345096.6:p.Met155Val | |
| ENST00000648462.1:c.110A>G | ||
| ENST00000338791.10:c.463A>G | ENSP00000345096.6:p.Met155Val | |
| ENST00000348127.10:c.355A>G | ENSP00000265385.8:p.Met119Val | |
| ENST00000354269.9:c.433A>G | ENSP00000346219.5:p.Met145Val | |
| ENST00000419067.6:c.364A>G | ENSP00000399400.2:p.Met122Val | |
| ENST00000469328.5:c.209A>G | ||
| ENST00000470772.5:c.208A>G | ENSP00000417296.1:p.Met70Val | |
| ENST00000473463.1:c.*209A>G | ENSP00000420469.1:n.*209A>G | |
| ENST00000480861.5:c.208A>G | ENSP00000420185.1:p.Met70Val | |
| ENST00000484496.5:c.319A>G | ENSP00000418742.1:p.Met107Val | |
| ENST00000489263.1:c.256A>G | ENSP00000418592.1:p.Met86Val | |
| ENST00000491376.5:n.632A>G | ||
| ENST00000496200.5:c.208A>G | ENSP00000420803.1:p.Met70Val | |
| ENST00000496487.5:n.283A>G | ||
| ENST00000497868.5:c.256A>G | ENSP00000419609.1:p.Met86Val | |
| ENST00000626419.2:c.208A>G | ENSP00000486056.1:p.Met70Val | |
| NM_000883.3:c.463A>G | NP_000874.2:p.Met155Val | |
| NM_001102605.1:c.433A>G | NP_001096075.1:p.Met145Val | |
| NM_001142573.1:c.208A>G | NP_001136045.1:p.Met70Val | |
| NM_001142574.1:c.208A>G | NP_001136046.1:p.Met70Val | |
| NM_001142575.1:c.208A>G | NP_001136047.1:p.Met70Val | |
| NM_001142576.1:c.364A>G | NP_001136048.1:p.Met122Val | |
| NM_001304521.1:c.256A>G | NP_001291450.1:p.Met86Val | |
| NM_183243.2:c.355A>G | NP_899066.1:p.Met119Val | |
| XM_005250314.1:c.232A>G | XP_005250371.1:p.Met78Val | |
| XM_006715967.1:c.463A>G | XP_006716030.1:p.Met155Val | |
| XM_006715968.1:c.433A>G | XP_006716031.1:p.Met145Val | |
| XM_006715969.1:c.355A>G | XP_006716032.1:p.Met119Val | |
| XM_006715970.2:c.256A>G | XP_006716033.1:p.Met86Val | |
| XM_006715971.1:c.232A>G | XP_006716034.1:p.Met78Val | |
| XM_017012172.1:c.232A>G | XP_016867661.1:p.Met78Val | |
| XM_017012173.1:c.433A>G | XP_016867662.1:p.Met145Val | |
| XM_024446755.1:c.433A>G | XP_024302523.1:p.Met145Val | |
| XM_024446756.1:c.355A>G | XP_024302524.1:p.Met119Val | |
| XM_024446757.1:c.256A>G | XP_024302525.1:p.Met86Val | |
| XM_024446758.1:c.232A>G | XP_024302526.1:p.Met78Val | |
| NM_000883.4:c.463A>G MANE Select | NP_000874.2:p.Met155Val | |
| NM_001102605.2:c.433A>G | NP_001096075.1:p.Met145Val | |
| NM_001142573.2:c.208A>G | NP_001136045.1:p.Met70Val | |
| NM_001142574.2:c.208A>G | NP_001136046.1:p.Met70Val | |
| NM_001142575.2:c.208A>G | NP_001136047.1:p.Met70Val | |
| NM_001142576.2:c.364A>G | NP_001136048.1:p.Met122Val | |
| NM_001304521.2:c.256A>G | NP_001291450.1:p.Met86Val | |
| NM_183243.3:c.355A>G | NP_899066.1:p.Met119Val |